Journal articles: 'ALMT1'

1

Ramesh, Sunita A., Yu Long, Abolfazl Dashtbani-Roozbehani, Matthew Gilliham, Melissa H. Brown, and Stephen D. Tyerman. "Picrotoxin Delineates Different Transport Configurations for Malate and γ Aminobutyric Acid through TaALMT1." Biology 11, no. 8 (August 2, 2022): 1162. http://dx.doi.org/10.3390/biology11081162.

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Plant-derived pharmacological agents have been used extensively to dissect the structure–function relationships of mammalian GABA receptors and ion channels. Picrotoxin is a non-competitive antagonist of mammalian GABAA receptors. Here, we report that picrotoxin inhibits the anion (malate) efflux mediated by wheat (Triticum aestivum) ALMT1 but has no effect on GABA transport. The EC50 for inhibition was 0.14 nM and 0.18 nM when the ALMTs were expressed in tobacco BY2 cells and in Xenopus oocytes, respectively. Patch clamping of the oocyte plasma membrane expressing wheat ALMT1 showed that picrotoxin inhibited malate currents from both sides of the membrane. These results demonstrate that picrotoxin inhibits anion efflux effectively and can be used as a new inhibitor to study the ion fluxes mediated by ALMT proteins that allow either GABA or anion transport.

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Raman, Harsh, Kerong Zhang, Mehmet Cakir, Rudi Appels, David F. Garvin, Lyza G. Maron, Leon V. Kochian, et al. "Molecular characterization and mapping of ALMT1, the aluminium-tolerance gene of bread wheat (Triticum aestivum L.)." Genome 48, no. 5 (October 1, 2005): 781–91. http://dx.doi.org/10.1139/g05-054.

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The major aluminum (Al) tolerance gene in wheat ALMT1 confers. An Al-activated efflux of malate from root apices. We determined the genomic structure of the ALMT1 gene and found it consists of 6 exons interrupted by 5 introns. Sequencing a range of wheat genotypes identified 3 alleles for ALMT1, 1 of which was identical to the ALMT1 gene from an Aegilops tauschii accession. The ALMT1 gene was mapped to chromosome 4DL using 'Chinese Spring' deletion lines, and loss of ALMT1 coincided with the loss of both Al tolerance and Al-activated malate efflux. Aluminium tolerance in each of 5 different doubled-haploid populations was found to be conditioned by a single major gene. When ALMT1 was polymorphic between the parental lines, QTL and linkage analyses indicated that ALMT1 mapped to chromosome 4DL and cosegregated with Al tolerance. In 2 populations examined, Al tolerance also segregated with a greater capacity for Al-activated malate efflux. Aluminium tolerance was not associated with a particular coding allele for ALMT1, but was significantly correlated with the relative level of ALMT1 expression. These findings suggest that the Al tolerance in a diverse range of wheat genotypes is primarily conditioned by ALMT1.Key words: aluminum, tolerance, genetic marker, Triticum aestivum, QTL, deletion mapping.

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Long, Yu, Stephen D. Tyerman, and Matthew Gilliham. "Cytosolic GABA inhibits anion transport by wheat ALMT1." New Phytologist 225, no. 2 (November 3, 2019): 671–78. http://dx.doi.org/10.1111/nph.16238.

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Shen, Nuo, Sifan Hou, Guoqing Tu, Wenzhi Lan, and Yanping Jing. "Transcription Factor WRKY33 Mediates the Phosphate Deficiency-Induced Remodeling of Root Architecture by Modulating Iron Homeostasis in Arabidopsis Roots." International Journal of Molecular Sciences 22, no. 17 (August 27, 2021): 9275. http://dx.doi.org/10.3390/ijms22179275.

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The remodeling of root architecture is regarded as a major development to improve the plant’s adaptivity to phosphate (Pi)-deficient conditions. The WRKY transcription factors family has been reported to regulate the Pi-deficiency-induced systemic responses by affecting Pi absorption or transportation. Whether these transcription factors act as a regulator to mediate the Pi-deficiency-induced remodeling of root architecture, a typical local response, is still unclear. Here, we identified an Arabidopsis transcription factor, WRKY33, that acted as a negative regulator to mediate the Pi-deficiency-induced remodeling of root architecture. The disruption of WRKY33 in wrky33-2 mutant increased the plant’s low Pi sensitivity by further inhibiting the primary root growth and promoting the formation of root hair. Furthermore, we revealed that WRKY33 negatively regulated the remodeling of root architecture by controlling the transcriptional expression of ALMT1 under Pi-deficient conditions, which further mediated the Fe3+ accumulation in root tips to inhibit the root growth. In conclusion, this study demonstrates a previously unrecognized signaling crosstalk between WRKY33 and the ALMT1-mediated malate transport system to regulate the Pi deficiency responses.

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Wang, Jiangqin, Xiafei Yu, Zhong Jie Ding, Xiaokang Zhang, Yanping Luo, Ximing Xu, Yuan Xie, et al. "Structural basis of ALMT1-mediated aluminum resistance in Arabidopsis." Cell Research 32, no. 1 (November 19, 2021): 89–98. http://dx.doi.org/10.1038/s41422-021-00587-6.

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Delhaize, E., P. R. Ryan, D. M. Hebb, Y. Yamamoto, T. Sasaki, and H. Matsumoto. "Engineering high-level aluminum tolerance in barley with the ALMT1 gene." Proceedings of the National Academy of Sciences 101, no. 42 (October 7, 2004): 15249–54. http://dx.doi.org/10.1073/pnas.0406258101.

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Yamaguchi, Mineo, Takayuki Sasaki, Mayandi Sivaguru, Yoko Yamamoto, Hiroki Osawa, Sung Ju Ahn, and Hideaki Matsumoto. "Evidence for the Plasma Membrane Localization of Al-activated Malate Transporter (ALMT1)." Plant and Cell Physiology 46, no. 5 (May 1, 2005): 812–16. http://dx.doi.org/10.1093/pcp/pci083.

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8

Wang, Yuqi, Ruihong Li, Demou Li, Xiaomin Jia, Dangwei Zhou, Jianyong Li, Sangbom M. Lyi, et al. "NIP1;2 is a plasma membrane-localized transporter mediating aluminum uptake, translocation, and tolerance in Arabidopsis." Proceedings of the National Academy of Sciences 114, no. 19 (April 24, 2017): 5047–52. http://dx.doi.org/10.1073/pnas.1618557114.

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Members of the aquaporin (AQP) family have been suggested to transport aluminum (Al) in plants; however, the Al form transported by AQPs and the roles of AQPs in Al tolerance remain elusive. Here we report that NIP1;2, a plasma membrane-localized member of the Arabidopsis nodulin 26-like intrinsic protein (NIP) subfamily of the AQP family, facilitates Al-malate transport from the root cell wall into the root symplasm, with subsequent Al xylem loading and root-to-shoot translocation, which are critical steps in an internal Al tolerance mechanism in Arabidopsis. We found that NIP1;2 transcripts are expressed mainly in the root tips, and that this expression is enhanced by Al but not by other metal stresses. Mutations in NIP1;2 lead to hyperaccumulation of toxic Al3+ in the root cell wall, inhibition of root-to-shoot Al translocation, and a significant reduction in Al tolerance. NIP1;2 facilitates the transport of Al-malate, but not Al3+ ions, in both yeast and Arabidopsis. We demonstrate that the formation of the Al-malate complex in the root tip apoplast is a prerequisite for NIP1;2-mediated Al removal from the root cell wall, and that this requires a functional root malate exudation system mediated by the Al-activated malate transporter, ALMT1. Taken together, these findings reveal a critical linkage between the previously identified Al exclusion mechanism based on root malate release and an internal Al tolerance mechanism identified here through the coordinated function of NIP1;2 and ALMT1, which is required for Al removal from the root cell wall, root-to-shoot Al translocation, and overall Al tolerance in Arabidopsis.

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Xu, Jiameng, Jiayong Zhu, Jiajia Liu, Junxia Wang, Zhaojun Ding, and Huiyu Tian. "SIZ1 negatively regulates aluminum resistance by mediating the STOP1–ALMT1 pathway in Arabidopsis." Journal of Integrative Plant Biology 63, no. 6 (April 18, 2021): 1147–60. http://dx.doi.org/10.1111/jipb.13091.

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10

Bilal, Saqib, Adil Khan, Muhammad Imran, Abdul Latif Khan, Sajjad Asaf, Ahmed Al-Rawahi, Masoud Sulaiman Abood Al-Azri, Ahmed Al-Harrasi, and In-Jung Lee. "Silicon- and Boron-Induced Physio-Biochemical Alteration and Organic Acid Regulation Mitigates Aluminum Phytotoxicity in Date Palm Seedlings." Antioxidants 11, no. 6 (May 27, 2022): 1063. http://dx.doi.org/10.3390/antiox11061063.

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The current study aimed to understand the synergistic impacts of silicon (Si; 1.0 mM) and boron (B; 10 µM) application on modulating physio-molecular responses of date palm to mitigate aluminum (Al3+; 2.0 mM) toxicity. Results revealed that compared to sole Si and B treatments, a combined application significantly improved plant growth, biomass, and photosynthetic pigments during Al toxicity. Interestingly, Si and B resulted in significantly higher exudation of organic acid (malic acids, citric acids, and acetic acid) in the plant’s rhizosphere. This is also correlated with the reduced accumulation and translocation of Al in roots (60%) and shoots (56%) in Si and B treatments during Al toxicity compared to in sole Al3+ treatment. The activation of organic acids by combined Si + B application has significantly regulated the ALMT1, ALMT2 and plasma membrane ATPase; PMMA1 and PMMA3 in roots and shoots. Further, the Si-related transporter Lsi2 gene was upregulated by Si + B application under Al toxicity. This was also validated by the higher uptake and translocation of Si in plants. Al-induced oxidative stress was significantly counteracted by exhibiting lower malondialdehyde and superoxide production in Si + B treatments. Experiencing less oxidative stress was evident from upregulation of CAT and Cyt-Cu/Zn SOD expression; hence, enzymatic activities such as polyphenol oxidase, catalase, peroxidase, and ascorbate peroxidase were significantly activated. In the case of endogenous phytohormones, Si + B application demonstrated the downregulation of the abscisic acid (ABA; NCED1 and NCED6) and salicylic acid (SA; PYL4, PYR1) biosynthesis-related genes. Consequently, we also noticed a lower accumulation of ABA and rising SA levels under Al-stress. The current findings illustrate that the synergistic Si + B application could be an effective strategy for date palm growth and productivity against Al stress and could be further extended in field trails in Al-contaminated fields.

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Silva-Navas, J., N. Salvador, J. C. del Pozo, C. Benito, and F. J. Gallego. "The rye transcription factor ScSTOP1 regulates the tolerance to aluminum by activating the ALMT1 transporter." Plant Science 310 (September 2021): 110951. http://dx.doi.org/10.1016/j.plantsci.2021.110951.

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12

Motoda, Hirotoshi, Takayuki Sasaki, Yoshio Kano, Peter R. Ryan, Emmanuel Delhaize, Hideaki Matsumoto, and Yoko Yamamoto. "The Membrane Topology of ALMT1, an Aluminum-Activated Malate Transport Protein in Wheat (Triticum aestivum)." Plant Signaling & Behavior 2, no. 6 (November 2007): 467–72. http://dx.doi.org/10.4161/psb.2.6.4801.

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13

Raman, Harsh, Rosy Raman, Rachel Wood, and Peter Martin. "Repetitive Indel Markers within the ALMT1 Gene Conditioning Aluminium Tolerance in Wheat (Triticum aestivum L.)." Molecular Breeding 18, no. 2 (August 17, 2006): 171–83. http://dx.doi.org/10.1007/s11032-006-9025-2.

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14

Collins, N. C., N. J. Shirley, M. Saeed, M. Pallotta, and J. P. Gustafson. "An ALMT1 Gene Cluster Controlling Aluminum Tolerance at the Alt4 Locus of Rye (Secale cereale L.)." Genetics 179, no. 1 (May 2008): 669–82. http://dx.doi.org/10.1534/genetics.107.083451.

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15

Sasaki, Takayuki, Peter R. Ryan, Emmanuel Delhaize, Diane M. Hebb, Yasunari Ogihara, Kanako Kawaura, Kazuhiro Noda, et al. "Sequence Upstream of the Wheat ( Triticum aestivum L.) ALMT1 Gene and its Relationship to Aluminum Resistance." Plant and Cell Physiology 47, no. 10 (October 2006): 1343–54. http://dx.doi.org/10.1093/pcp/pcl002.

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16

Piñeros, Miguel A., Geraldo M. A. Cançado, Lyza G. Maron, Sangbom M. Lyi, Marcelo Menossi, and Leon V. Kochian. "Not all ALMT1-type transporters mediate aluminum-activated organic acid responses: the case of ZmALMT1 - an anion-selective transporter." Plant Journal 53, no. 2 (October 17, 2007): 352–67. http://dx.doi.org/10.1111/j.1365-313x.2007.03344.x.

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17

Eagles, H. A., Karen Cane, Ben Trevaskis, Neil Vallance, R. F. Eastwood, N. N. Gororo, Haydn Kuchel, and P. J. Martin. "Ppd1, Vrn1, ALMT1 and Rht genes and their effects on grain yield in lower rainfall environments in southern Australia." Crop and Pasture Science 65, no. 2 (2014): 159. http://dx.doi.org/10.1071/cp13374.

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Allele-specific markers for important genes can improve the efficiency of plant breeding. Their value can be enhanced if effects of the alleles for important traits can be estimated in identifiable types of environment. Provided potential bias can be minimised, large, unbalanced, datasets from previous plant-breeding and agronomic research can be used. Reliable, allele-specific markers are now available for the phenology genes Ppd-D1, Vrn-A1, Vrn-B1 and Vrn-D1, the aluminium-tolerance gene TaALMT1, and the plant-stature genes Rht-B1 and Rht-D1. We used a set of 208 experiments with growing-season rainfall of <347 mm from southern Australia to estimate the effects of seven frequent combinations of the phenology genes, an intolerant and a tolerant allele of TaALMT1, and two semi-dwarf combinations Rht-B1b + Rht-D1a (Rht-ba) and Rht-B1a + Rht-D1b (Rht-ab) on grain yield in lower rainfall, Mediterranean-type environments in southern Australia. There were 775 lines in our analyses and a relationship matrix was used to minimise bias. Differences among the phenology genes were small, but the spring allele Vrn-B1a might be desirable. The tolerant allele, TaALMT1-V, was advantageous in locations with alkaline soils, possibly because of toxic levels of aluminium ions in subsoils. The advantage of TaALMT1-V is likely to be highest when mean maximum temperatures in spring are high. Rht-ab (Rht2 semi-dwarf) was also advantageous in environments with high mean maximum temperatures in spring, suggesting that for these stress environments, the combination of Vrn-B1a plus TaALMT1-V plus Rht-ab should be desirable. Many successful cultivars carry this combination.

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Rico-Reséndiz, Félix, Sergio Alan Cervantes-Pérez, Annie Espinal-Centeno, Melissa Dipp-Álvarez, Araceli Oropeza-Aburto, Enrique Hurtado-Bautista, Andrés Cruz-Hernández, et al. "Transcriptional and Morpho-Physiological Responses of Marchantia polymorpha upon Phosphate Starvation." International Journal of Molecular Sciences 21, no. 21 (November 7, 2020): 8354. http://dx.doi.org/10.3390/ijms21218354.

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Phosphate (Pi) is a pivotal nutrient that constraints plant development and productivity in natural ecosystems. Land colonization by plants, more than 470 million years ago, evolved adaptive mechanisms to conquer Pi-scarce environments. However, little is known about the molecular basis underlying such adaptations at early branches of plant phylogeny. To shed light on how early divergent plants respond to Pi limitation, we analyzed the morpho-physiological and transcriptional dynamics of Marchantia polymorpha upon Pi starvation. Our phylogenomic analysis highlights some gene networks present since the Chlorophytes and others established in the Streptophytes (e.g., PHR1–SPX1 and STOP1–ALMT1, respectively). At the morpho-physiological level, the response is characterized by the induction of phosphatase activity, media acidification, accumulation of auronidins, reduction of internal Pi concentration, and developmental modifications of rhizoids. The transcriptional response involves the induction of MpPHR1, Pi transporters, lipid turnover enzymes, and MpMYB14, which is an essential transcription factor for auronidins biosynthesis. MpSTOP2 up-regulation correlates with expression changes in genes related to organic acid biosynthesis and transport, suggesting a preference for citrate exudation. An analysis of MpPHR1 binding sequences (P1BS) shows an enrichment of this cis regulatory element in differentially expressed genes. Our study unravels the strategies, at diverse levels of organization, exerted by M. polymorpha to cope with low Pi availability.

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Samokhina, Veranika V., Palina V. Hryvusevich, Anatoliy I. Sokolik, and Vadim V. Demidchik. "Electrophysiological and radioisotope analysis of ion fluxes induced by salt and oxidative stress in higher plant root cells." Experimental Biology and Biotechnology, no. 3 (October 26, 2022): 14–25. http://dx.doi.org/10.33581/2957-5060-2022-3-14-25.

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Environmental stresses induce the release of electrolytes from root cells into the extracellular space, including key inorganic and organic ions. This phenomenon is described for salinity, drought, attack of pathogens, exposure to heavy metals, oxidative stress, etc. The efflux of electrolytes is also observed during some processes of normal physiology, being part of the gravitropic response, the formation of polarity and the growth of the cell elongation. Despite the long study of this phenomenon, today its molecular mechanism remains unclear. In the present study, a combined approach based on the labeled atom method (loading isotope 86Rb+ followed by recording the parameters of its efflux from root cells), reverse genetics and the patch-clamp technique has been developed for testing the biophysical and molecular nature of the efflux of electrolytes from the root cells. It has been demonstrated that in the roots of Arabidоpsis thaliana (L.) Heynh., the K+ efflux during salinisation and oxidative stress is catalysed by K+ channels encoded by the GORK gene (guard cell outward-rectifying K+ channel), and the efflux of organic anions – by anion channels encoded by the ALMT1 gene (aluminum-activated malate transporter 1). The characteristics of the combined functioning of these systems under stress have been established.

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Ali, Muhammad Moaaz, Shariq Mahmood Alam, Raheel Anwar, Sajid Ali, Meng Shi, Dangdi Liang, Zhimin Lin, and Faxing Chen. "Genome-Wide Identification, Characterization and Expression Profiling of Aluminum-Activated Malate Transporters in Eriobotrya japonica Lindl." Horticulturae 7, no. 11 (November 1, 2021): 441. http://dx.doi.org/10.3390/horticulturae7110441.

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Aluminum-activated malate transporters (ALMTs) have multiple potential roles in plant metabolism such as regulation of organic acids in fruits, movement of guard cells and inducing tolerance against aluminum stress. However, the systematic characterization of ALMT genes in loquat is yet to be performed. In the current study, 24 putative ALMT genes were identified in the genome of Eriobotrya japonica Lindl. To further investigate the role of those ALMT genes, comprehensive bioinformatics and expression analysis were performed. In bioinformatics analysis, the physiochemical properties, conserved domains, gene structure, conserved motif, phylogenetic and syntenic analysis of EjALMT genes were conducted. The result revealed that the ALMT superfamily domain was conserved in all EjALMT proteins. EjALMT proteins were predicted to be localized in the plasma membrane. Genomic structural and motif analysis showed that the exon and motif number of each EjALMT gene ranged dramatically, from 5 to 7, and 6 to 10, respectively. Syntenic analysis indicated that the segmental or whole-genome duplication played a vital role in extension of the EjALMT gene family. The Ka and Ks values of duplicated genes depicted that EjALMT genes have undergone a strong purifying selection. Furthermore, the expression analysis of EjALMT genes was performed in the root, mature leaf, stem, full-bloom flower and ripened fruit of loquat. Some genes were expressed differentially in examined loquat tissues, signifying their differential role in plant growth and development. This study provides the first genome-wide identification, characterization, and relative expression of the ALMT gene family in loquat and provides the foundation for further functional analysis.

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Saha, B., D. Swain, P. Borgohain, G. R. Rout, H. Koyama, and S. K. Panda. "Enhanced exudation of malate in the rhizosphere due to At ALMT1 overexpression in blackgram ( Vigna mungo L.) confers increased aluminium tolerance." Plant Biology 22, no. 4 (April 29, 2020): 701–8. http://dx.doi.org/10.1111/plb.13112.

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Ma, Baiquan, Yangyang Yuan, Meng Gao, Tonghui Qi, Mingjun Li, and Fengwang Ma. "Genome-Wide Identification, Molecular Evolution, and Expression Divergence of Aluminum-Activated Malate Transporters in Apples." International Journal of Molecular Sciences 19, no. 9 (September 18, 2018): 2807. http://dx.doi.org/10.3390/ijms19092807.

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Aluminum-activated malate transporters (ALMTs) play an important role in aluminum tolerance, stomatal opening, and fruit acidity in plants. However, the evolutionary pattern of the ALMT gene family in apples remains relatively unknown. In this study, a total of 25 MdALMT genes were identified from the apple reference genome of the “Golden Delicious” doubled-haploid tree (GDDH13). The physiological and biochemical properties, gene structure, and conserved motifs of MdALMT genes were examined. Chromosome location and gene-duplication analysis indicated that whole-genome duplication/segmental duplication played an important role in the expansion of the MdALMT gene family. The Ka/Ks ratio of duplicated MdALMT genes showed that members of this family have undergone strong purifying selection. Through exploration of the phylogenetic relationships, seven subgroups were classified, and higher old gene duplication frequency and significantly different evolutionary rates of the ALMT gene families were detected. In addition, the functional divergence of ALMT genes occurred during the evolutionary process of Rosaceae species. Furthermore, the functional divergence of MdALMT genes was confirmed by expression discrepancy and different subcellular localizations. This study provides the foundation to better understand the molecular evolution of MdALMT genes and further facilitate functional analysis to unravel their exact role in apples.

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Zhu, Xue, Peng Wang, Zhimin Bai, Marco Herde, Yanqi Ma, Na Li, Shuo Liu, et al. "Calmodulin‐like protein CML24 interacts with CAMTA2 and WRKY46 to regulate ALMT1 ‐dependent Al resistance in Arabidopsis thaliana." New Phytologist 233, no. 6 (November 5, 2021): 2471–87. http://dx.doi.org/10.1111/nph.17812.

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Mora-Macías, Javier, Jonathan Odilón Ojeda-Rivera, Dolores Gutiérrez-Alanís, Lenin Yong-Villalobos, Araceli Oropeza-Aburto, Javier Raya-González, Gabriel Jiménez-Domínguez, Gabriela Chávez-Calvillo, Rubén Rellán-Álvarez, and Luis Herrera-Estrella. "Malate-dependent Fe accumulation is a critical checkpoint in the root developmental response to low phosphate." Proceedings of the National Academy of Sciences 114, no. 17 (April 11, 2017): E3563—E3572. http://dx.doi.org/10.1073/pnas.1701952114.

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Low phosphate (Pi) availability constrains plant development and seed production in both natural and agricultural ecosystems. When Pi is scarce, modifications of root system architecture (RSA) enhance the soil exploration ability of the plant and lead to an increase in Pi uptake. In Arabidopsis, an iron-dependent mechanism reprograms primary root growth in response to low Pi availability. This program is activated upon contact of the root tip with low-Pi media and induces premature cell differentiation and the arrest of mitotic activity in the root apical meristem, resulting in a short-root phenotype. However, the mechanisms that regulate the primary root response to Pi-limiting conditions remain largely unknown. Here we report on the isolation and characterization of two low-Pi insensitive mutants (lpi5 and lpi6), which have a long-root phenotype when grown in low-Pi media. Cellular, genomic, and transcriptomic analysis of low-Pi insensitive mutants revealed that the genes previously shown to underlie Arabidopsis Al tolerance via root malate exudation, known as SENSITIVE TO PROTON RHIZOTOXICITY (STOP1) and ALUMINUM ACTIVATED MALATE TRANSPORTER 1 (ALMT1), represent a critical checkpoint in the root developmental response to Pi starvation in Arabidopsis thaliana. Our results also show that exogenous malate can rescue the long-root phenotype of lpi5 and lpi6. Malate exudation is required for the accumulation of Fe in the apoplast of meristematic cells, triggering the differentiation of meristematic cells in response to Pi deprivation.

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Iguchi, Akira, Kazutsuka Sanmiya, and Kenta Watanabe. "Identification of genes encoding ALMT and MATE transporters as candidate aluminum tolerance genes from a typical acid soil plant, Psychotria rubra (Rubiaceae)." PeerJ 7 (September 25, 2019): e7739. http://dx.doi.org/10.7717/peerj.7739.

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To understand how tropical plants have adapted to acid soils, we analyzed the transcriptome of seedlings of Psychotria rubra, a typical species found on acid soils. Using RNA-seq, we identified 22,798 genes, including several encoding proteins of the Al3+-activated malate transporter (ALMT) and multidrug and toxic compound extrusion (MATE) families. Molecular phylogenetic analysis of ALMTs and MATEs revealed the grouping of those from P. rubra, which may be useful to select targets for elucidating the molecular basis of P. rubra adaptation to acid soils in the future. The transcriptome datasets obtained in this study would help us to further understand the physiological and ecological aspects of soil adaptation of Psychotria species.

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Din, Ismail, Ihteram Ullah, Wei Wang, Hao Zhang, and Lei Shi. "Genome-Wide Analysis, Evolutionary History and Response of ALMT Family to Phosphate Starvation in Brassica napus." International Journal of Molecular Sciences 22, no. 9 (April 28, 2021): 4625. http://dx.doi.org/10.3390/ijms22094625.

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Low phosphorus (P) availability is one of the major constraints to plant growth, particularly in acidic soils. A possible mechanism for enhancing the use of sparsely soluble P forms is the secretion of malate in plants by the aluminum-activated malate transporter (ALMT) gene family. Despite its significance in plant biology, the identification of the ALMT gene family in oilseed rape (Brassica napus; B. napus), an allotetraploid crop, is unveiled. Herein, we performed genome-wide identification and characterization of ALMTs in B. napus, determined their gene expression in different tissues and monitored transcriptional regulation of BnaALMTs in the roots and leaves at both a sufficient and a deficient P supply. Thirty-nine BnaALMT genes were identified and were clustered into five branches in the phylogenetic tree based on protein sequences. Collinearity analysis revealed that most of the BnaALMT genes shared syntenic relationships among BnaALMT members in B. napus, which suggested that whole-genome duplication (polyploidy) played a major driving force for BnaALMTs evolution in addition to segmental duplication. RNA-seq analyses showed that most BnaALMT genes were preferentially expressed in root and leaf tissues. Among them, the expression of BnaC08g13520D, BnaC08g15170D, BnaC08g15180D, BnaC08g13490D, BnaC08g13500D, BnaA08g26960D, BnaC05g14120D, BnaA06g12560D, BnaC05g20630D, BnaA07g02630D, BnaA04g15700D were significantly up-regulated in B. napus roots and leaf at a P deficient supply. The current study analyzes the evolution and the expression of the ALMT family in B. napus, which will help in further research on their role in the enhancement of soil P availability by secretion of organic acids.

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Hryvusevich, Palina V., Veranika V. Samokhina, and Vadim V. Demidchik. "Stress-induced electrolyte leakage from root cells of higher plants: background, mechanism and physiological role." Experimental Biology and Biotechnology, no. 2 (July 12, 2022): 4–18. http://dx.doi.org/10.33581/2957-5060-2022-2-4-18.

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Electrolyte leakage from tissues is one of the central reactions of the plant organism to stress. It is observed under almost any type of stresses, both abiotic and biotic. The loss of key electrolytes can lead to significant changes in metabolism and, in some cases, to the death of cells or the whole organism. For a long time, it was believed, that electrolyte leakage is associated with disruption of cell integrity and plasma membranes degradation, and that it is an unregulated process. However, in recent years, a lot of evidence has been received that, in most cases, electrolyte leakage is inhibited by ion channel blockers and reversible. It means that it is associated with the transfer of ions through the membrane by transport proteins, such as ion channels. Recently, the experimental evidence has been obtained, that under salinity, drought, pathogen attack, excessive levels of heavy metals, hypo- and hyperthermia, as well as oxidative stress, the electrolyte leakage in plant cells is mediated by several types of cation and anion channels, including K+-selective channels (SKOR and GORK), anion channels (such as ALMT1) and a number of non-selective cation channels. It has been demonstrated that the primary reactions that induce electrolyte leakage are plasma membrane depolarisation and generation of reactive oxygen species, leading to the activation of redox-regulated outwardly rectifying K+ channels, such as SKOR and GORK. Potassium efflux is up-stream and stimulates the counterion flow (transport of anions) through the anion channels. The regulation of electrolyte leakage at the ion channel level and the corresponding selection for ion channel properties can become an important link in the directed control of stress resistance in higher plants. This can be applied in agriculture via breeding of stress-tolerant plant varieties, as well as developing modern amelioration techniques.

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Knorz, Victoria J., Cosma Spalluto, Mark Lessard, Tracey L. Purvis, Fiona F. Adigun, Gayle B. Collin, Neil A. Hanley, David I. Wilson, and Thomas Hearn. "Centriolar Association of ALMS1 and Likely Centrosomal Functions of the ALMS Motif–containing Proteins C10orf90 and KIAA1731." Molecular Biology of the Cell 21, no. 21 (November 2010): 3617–29. http://dx.doi.org/10.1091/mbc.e10-03-0246.

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Mutations in the human gene ALMS1 cause Alström syndrome, a rare progressive condition characterized by neurosensory degeneration and metabolic defects. ALMS1 protein localizes to the centrosome and has been implicated in the assembly and/or maintenance of primary cilia; however its precise function, distribution within the centrosome, and mechanism of centrosomal recruitment are unknown. The C-terminus of ALMS1 contains a region with similarity to the uncharacterized human protein C10orf90, termed the ALMS motif. Here, we show that a third human protein, the candidate centrosomal protein KIAA1731, contains an ALMS motif and that exogenously expressed KIAA1731 and C10orf90 localize to the centrosome. However, based on deletion analysis of ALMS1, the ALMS motif appears unlikely to be critical for centrosomal targeting. RNAi analyses suggest that C10orf90 and KIAA1731 have roles in primary cilium assembly and centriole formation/stability, respectively. We also show that ALMS1 localizes specifically to the proximal ends of centrioles and basal bodies, where it colocalizes with the centrosome cohesion protein C-Nap1. RNAi analysis reveals markedly diminished centrosomal levels of C-Nap1 and compromised cohesion of parental centrioles in ALMS1-depleted cells. In summary, these data suggest centrosomal functions for C10orf90 and KIAA1731 and new centriole-related functions for ALMS1.

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Li, Wen, Rui Wang, Jie-yi Ma, Mian Wang, Jin Cui, Wei-bin Wu, Rui-ming Liu, Chun-xiang Zhang, Wen Li, and Shen-ming Wang. "A Human Long Non-Coding RNA ALT1 Controls the Cell Cycle of Vascular Endothelial Cells Via ACE2 and Cyclin D1 Pathway." Cellular Physiology and Biochemistry 43, no. 3 (2017): 1152–67. http://dx.doi.org/10.1159/000481756.

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Background/Aims: ALT1 is a novel long non-coding RNA derived from the alternatively spliced transcript of the deleted in lymphocytic leukemia 2 (DLEU2). To date, ALT1 biological roles in human vascular endothelial cells have not been reported. Methods: ALT1 was knocked down by siRNAs. Cell proliferation was analyzed by cck-8. The existence and sequence of human ALT1 were identified by 3’ rapid amplification of cDNA ends. The interaction between lncRNA and proteins was analyzed by RNA-Protein pull down assay, RNA immunoprecipitation, and mass spectrometry analysis. Results: ALT1 was expressed in human umbilical vein endothelial cells (HUVECs). The expression of ALT1 was significantly downregulated in contact-inhibited HUVECs and in hypoxia-induced, growth-arrested HUVECs. Knocking down of ALT1 inhibited the proliferation of HUVECs by G0/G1 cell cycle arrest. We observed that angiotensin converting enzyme Ⅱ(ACE2) was a direct target gene of ALT1. Knocking-down of ALT1 or its target gene ACE2 could efficiently decrease the expression of cyclin D1 via the enhanced ubiquitination and degradation, in which HIF-1α and protein von Hippel-Lindau (pVHL) might be involved. Conclusion: The results suggested the human long non-coding RNA ALT1 is a novel regulator for cell cycle of HUVECs via ACE2 and cyclin D1 pathway.

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Xu, Xu, Egor Volcotrub, and Svetlana B. Ten. "LBSUN131 Leptin Level, BMI And Genetics In Early Onset Obesity." Journal of the Endocrine Society 6, Supplement_1 (November 1, 2022): A5. http://dx.doi.org/10.1210/jendso/bvac150.009.

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Abstract Objective To evaluate leptin level and its association with BMI and genetic predisposition in cases of early onset obesity. Methods 76 children (15.3 ± 10 yrs, 47 females) with morbid obesity (BMI of 41.7 ± 5.7 kg/m2) and 2 fathers and 5 mothers of these patients with BMI 47.8 ± 8.7 kg/m2 underwent genetic testing at the Prevention Genetics after obtaining consent. Leptin, Lipid profile, Glucose, Insulin, ALT, AST were measured. Results From 83 cases heterozygous polymorphism was found in 65 and in 18 genetic analysis was negative. | Patients were divided into 3 groups according to the leptin level. | 13 patients had leptin level less than 12 ng/ml (7.9 ± 2.5) (Group 1) (5 patients - no mutation, 8 with different combination of the genes: 1 with (BBS14 (CEP290) and BBS10), 2 BBS5, 2 SH2B1, 1 PLXNA3, 1 with (PCSK1 and ALMS1), 1 with BBS 20 (IFT172). Leptin didn't correlate with BMI in this group. | 6 patients had leptin elevated more than 50 ng/ml (74.5 ± 17.7) (Group 2). (1 patient – no mutation, 1 with KSR2, 1 with MCR4, 1 with SEMA3G, 1 with a combination of MCR4 and 2 different POMC, 1 with PLXNA4 and BBS15 (WDPCP). Leptin didn't correlate with BMI in this group. | 64 patients had leptin level (24.6 ± 9.4 ng/ml) expected for their BMI (42.7 ± 8.5 kg/m2) (Group 3). Leptin level correlated with BMI (r=0.37, P=0. 002). In group 3, Genetic analysis was negative in 12 patients, 1 gene was in 19 cases (KSR2 in 3, PCSK1 in 4, POMC in 2, others in 1: BBS 17(KZTFL1), BBS9, BBS21 (C8orf37), BBC20(IFT172), MCR4, MRAP2, PLXNA4, POMC, INPP5E, UCP3. | 2 genes in 25 cases: (BBS1, NTRK2), (BBS4, RAI1), (BBS4, PLXNA3) (BBS7, NTRK2), (BBS2, BBS9), (BBS9, MCR4),(BBS9, ADCY3), (BBS9, ALMS1), (BBS10, ALMS1), (BBS10, BBS22 (IFT74)), (BBS13 (MKS1), PCKS1), (BBS14 (CEP290), PCSK1), (BBS15 (WDPCP), PCSK1), (BBS18, POMC), (BBS20(IFT172), PCSK1), (BBS 22 (IFT74), SH2B1), (ALMS1,PCSK1), (ALMS1, BDNF), (SH2B1, NCOA1), (SH2B1, PCSK1), (SEMA3G, NTRK2), (SEMA3D, UCP3), (SIM1, NROB2), (KSR2, NTRK2), (MRAP2, RPGRIP1L). | 3 genes in 5 cases (BBS16 (SDCCAG8), BBS14 (CEP290), KIDINS220), (KSR2, ALMS1, PCNT), (KSR2, SEMA3G, NTRK2), (ALMS1, PCSK1, NCOA1), (BBS9, ALMS1, TRIM32)4 genes in 2 cases (BBS9, BBS11(TRIM32), ALMS1, POMC) and (BBS19 (IFT27), BBS 20 (IFT27), SEMA3B, PLXNA3). | 5 genes in 1 case (BBS12, BBS20 (IFT172), ALMS1, RPGRIP1L, SEMA3G). There were no differences in age, BMI, Hb A1c, SBP, DBP, Glucose, Insulin HOMA. ALT, AST, TG, and HDL levels between groups. Conclusion There is a high frequency of genes involved in cilia regulation like BBS and ALMS1 genes. Identifying patients with low leptin level for the degree of obesity can individualize treatment to decrease appetite and increase energy expenditure Presentation: Sunday, June 12, 2022 12:30 p.m. - 2:30 p.m.

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Allison, Susan J. "ALMS1–NKCC2 interactions." Nature Reviews Nephrology 15, no. 2 (November 15, 2018): 62. http://dx.doi.org/10.1038/s41581-018-0084-5.

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Liu, Lanrong, Hong Li, and Lixin Shi. "Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report." Experimental and Clinical Endocrinology & Diabetes Reports 04, no. 01 (August 23, 2017): e10-e13. http://dx.doi.org/10.1055/s-0043-109433.

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Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing. Using polymerase chain reaction (PCR) amplified ALMS1 gene exons and splice sequence. The objective products were directly sequenced and analyzed. Pathogenic gene mutations were identified by contrast with the transcript (GRCh37/hg19). Results The Child had typical clinical features of Alstrom syndrome. Sequencing the ALMS1 gene confirmed 2 novel heterozygous non-sense mutations in exon8, c.4600C>T (p.Q1534X) and in exon16, c.11410C>T (p.R3804X), respectively, resulting in premature protein truncation. Conclusions 2 novel heterozygous non-sense mutations were identified in the Chinese Child with Alstrom syndrome, expanding the ALMS1 gene mutations causing Alstrom syndrome.

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Minton, J. A. L., K. R. Owen, C. J. Ricketts, N. Crabtree, G. Shaikh, S. Ehtisham, J. R. Porter, et al. "Syndromic Obesity and Diabetes: Changes in Body Composition with Age and Mutation Analysis of ALMS1 in 12 United Kingdom Kindreds with Alström Syndrome." Journal of Clinical Endocrinology & Metabolism 91, no. 8 (August 1, 2006): 3110–16. http://dx.doi.org/10.1210/jc.2005-2633.

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Abstract Context: Alström syndrome (AS) is a monogenic form of infancy-onset obesity and insulin resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is unknown, in particular how this relates to changes in body composition. It is also unclear how ALMS1 mutations relate to the characteristic phenotype. Objectives: Our objectives were to characterize body composition and metabolic parameters, to establish ALMS1 mutation spectrum of United Kingdom AS patients, and to determine whether a genotype-phenotype correlation exists. Design and Patients: We conducted a cross-sectional cohort study of 12 unrelated subjects with AS. Age-standardized body composition was assessed by anthropometry and dual-energy x-ray absorptiometry and insulin sensitivity by homeostasis model assessment. The exons and intron-exon boundaries of ALMS1 were directly sequenced. Setting: The study was performed during the annual Alström Syndrome UK multidisciplinary screening clinic. Results: AS patients have early-onset obesity, but body mass index, waist circumference, and body fat from dual-energy x-ray absorptiometry were negatively correlated with age (r = −0.37, P = 0.2; r = −0.84, P = 0.002; and r = −0.6, P = 0.05). Despite this, insulin resistance increased, demonstrated by raised fasting insulin and fall in homeostasis model assessment insulin sensitivity with age (r = −0.64, P = 0.02). ALMS1 mutations were identified in 10 of 12 patients, with a potential founder mutation in exon 16 present in five [np 10775del (C); Del3592fs/ter3597]. No genotype-phenotype correlation was observed. Conclusions: We identified mutations in ALMS1 in more than 80% of patients with no genotype-phenotype correlation. In AS, severe childhood obesity, waist circumference, and body fat decrease with age, whereas insulin resistance increases. The abdominal obesity, insulin resistance, diabetes, hypertriglyceridemia, and hypertension suggest that AS could represent a monogenic model for the metabolic syndrome.

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Aslam, Ali, Shengjie Zhao, Muhammad Azam, Xuqiang Lu, Nan He, Bingbing Li, Junling Dou, Hongju Zhu, and Wenge Liu. "Comparative analysis of primary metabolites and transcriptome changes between ungrafted and pumpkin-grafted watermelon during fruit development." PeerJ 8 (January 6, 2020): e8259. http://dx.doi.org/10.7717/peerj.8259.

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Grafting has been reported as a factor that influences fruit quality. However, a comprehensive study of the metabolic profile related to fruit quality and the underlying molecular mechanism in grafted watermelon has not been carried out. Metabolomics and transcriptome analysis were performed on both pumpkin-grafted watermelon and ungrafted watermelon at different developmental stages. In total, 56 primary metabolites were identified with either high or low abundance between ungrafted and pumpkin-grafted watermelon. The results indicated that ornithine, arginine, lysine (amino acids), glucose, sucrose, glucosamine (sugars), malic acid, fumaric acid and succinic acid (organic acids) were among the dominant metabolites influencing fruit quality. Additionally, comparative RNA sequence analysis on grafted and ungrafted watermelon yielded 729, 174, 128 and 356 differentially expressed genes at 10, 18, 26 and 34 days after pollination (DAP), respectively. Functional annotations of these genes indicated that grafting significantly altered the biological and metabolic processes related to fruit quality. Our comparative metabolomics and transcriptome analysis revealed that FBA2, FK, SuSy, SPS, IAI, AI and sugar transporter gene (SWT3b) might play a central role in the accumulation of glucose and sucrose, whereas higher malic acid content was attributed to high down regulation of ALMT13 and ALMT8 in pumpkin-grafted watermelon. Changes in the ornithine, glutamine, alanine, tyrosine, valine, asparagine, phenylalanine, arginine and tryptophan contents were consistent with the transcript level of their metabolic genes such as NAOD, GS, AGT, TaT, aDH1, OGDH, aDC, 4CL 1, PaL, CaT and two nitrate transporter genes (NRT1) in pumpkin-grafted watermelon. This study provides the basis for understanding the graft-responsive changes in the metabolic profile and regulatory mechanism related to fruit quality.

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Sancan Jalca, Byron, and Daniel Leonardo Cruz Montesinos. "Síndrome de Alström (OMIM 203800): Reporte del primer caso en Ecuador." Revista Medicina e Investigación Clínica Guayaquil 2, no. 3 (November 18, 2021): 59–62. http://dx.doi.org/10.51597/rmicg.v2i3.61.

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El síndrome de Alström (ALMS) es un raro desorden autosómico recesivo, caracterizado por una progresiva afectación multiorgánica que puede ocasionar una muerte precoz. Se trata de un preescolar masculino de tres años y siete meses de edad que presenta fotofobia, nistagmo, cardiomiopatía ventricular dilatada, retraso en el desarrollo psicomotor, trastorno del sueño, obesidad y epilepsia. Entre los diagnósticos diferenciales del síndrome genético se planteó al ALMS. Se realizó la secuenciación del exoma completo, en el gen ALMS1 se identificaron dos nuevas variantes c.5024deIT (p.Phe1675SerfsTer16) en el exón 8 del gen ALMS1 y c.11717_1172 (0delGTTG p.Val3906GlysfsTer) en el exón 18 del gen ALMS1. El ALMS, es una enfermedad extremadamente rara de expresión clínica heterogénea el estudio molecular es determinante para su diagnóstico.

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Salas-Pino, Silvia, Paola Gallardo, Ramón R. Barrales, Sigurd Braun, and Rafael R. Daga. "The fission yeast nucleoporin Alm1 is required for proteasomal degradation of kinetochore components." Journal of Cell Biology 216, no. 11 (October 3, 2017): 3591–608. http://dx.doi.org/10.1083/jcb.201612194.

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Kinetochores (KTs) are large multiprotein complexes that constitute the interface between centromeric chromatin and the mitotic spindle during chromosome segregation. In spite of their essential role, little is known about how centromeres and KTs are assembled and how their precise stoichiometry is regulated. In this study, we show that the nuclear pore basket component Alm1 is required to maintain both the proteasome and its anchor, Cut8, at the nuclear envelope, which in turn regulates proteostasis of certain inner KT components. Consistently, alm1-deleted cells show increased levels of KT proteins, including CENP-CCnp3, spindle assembly checkpoint activation, and chromosome segregation defects. Our data demonstrate a novel function of the nucleoporin Alm1 in proteasome localization required for KT homeostasis.

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Lukonina, Natalya, E. Nosova, and Fedor V. Grechnikov. "The Effect of Annealing on Mechanical Properties, the Number of Fluidity, and the Size of Coherent Scattering Regions in AMg1, AMg5, and AMg6 Alloys." Solid State Phenomena 284 (October 2018): 470–75. http://dx.doi.org/10.4028/www.scientific.net/ssp.284.470.

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The paper presents the results of research of the structural blocking influence in Al-Mg sheet aluminum alloys on the change in mechanical properties and the stamp ability after cold working and annealing. The study was provided on sheet billets of AlMg1, AlMg5 and AlMg6 alloys containing respectively 1, 5 and 6 mass.% Mg. The initial thickness of the blanks is 2.5 mm. The blanks were cold rolled with a reduction rate of 30%. To eliminate the cold working hardening alloys were subjected to annealing at temperatures of 380 and 420°C for 1 hour. The charts of tensile strength, yield stress, and elongation change are plotted, depending on the state of the samples. Stamping was evaluated by the stamping ratio σ0.2/σb. To analyze the alloys’ grain structure blocking, the change in the size of the coherent scattering areas was estimated on the basis of X-ray diffraction studies. It is established that annealing leads to a significant decrease in the tensile strength, yield stress and elongation growth of alloys AlMg1, AlMg5 and AlMg6 sheet samples in the annealing temperature interval 380...420 ̊С. Despite the high plasticity of the AlMg1 alloy, it has lower stamping characteristics than alloys with higher magnesium content (AlMg5 and AlMg6). The yield stress of alloys decreases with increasing of annealing temperature, which indicates an increase in their stamping ability after annealing. The change in the coherent scattering areas sizes in alloys depends on the magnesium content. With an increase in the magnesium content, the coherent scattering area size increase with the annealing temperature. For an AlMg1 alloy, annealing after cold rolling does not lead to a change in the coherent scattering area size.

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Sahile, Atlaw Anbelu, Muhammad Aaqil Khan, Muhammad Hamayun, Muhammad Imran, Sang-Mo Kang, and In-Jung Lee. "Novel Bacillus cereus Strain, ALT1, Enhance Growth and Strengthens the Antioxidant System of Soybean under Cadmium Stress." Agronomy 11, no. 2 (February 23, 2021): 404. http://dx.doi.org/10.3390/agronomy11020404.

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Cadmium stress significantly decreases agricultural productivity worldwide. Plant growth-promoting rhizobacteria (PGPR) are eco-friendly and inexpensive tool for mitigating heavy metal stress in crops. We isolated rhizospheric bacteria and screened them for various plant growth-promoting (PGP) traits as well as Cd tolerance. Only 6 bacterial isolates out of 55 assessed showed multiple PGP traits in response to different Cd concentrations. The Bacillus cereus ALT1 strain showed high tolerance to increased Cd amounts in the culture medium, while secreting indole-3-acetic acid (IAA) and organic acids into the culture medium. High Cd concentrations (0.7 mM, 1.4 mM, and 2.1 mM) reduced soybean shoot and root length, root/shoot fresh and dry weight, as well as chlorophyll content; however, inoculation with the bacterial isolate ALT1 mitigated Cd stress and enhanced both soybean growth parameters and chlorophyll content. It also decreased abscisic acid (ABA) amounts, enhanced salicylic acid (SA) production, and promoted antioxidant response by increasing total proteins (TP) and superoxide dismutase (SOD), while decreasing glutathione (GSH) content, lipid peroxidation (LPO), peroxidase (POD), superoxide anion (SOA), and polyphenol oxidase (PPO) in soybean plants. In addition, inductively coupled plasma mass spectrometry (ICP-MS) showed that soybean plants treated with the bacterial isolate ALT1 enhanced K uptake and decreased Cd amounts in comparison to control plants. The present study reveals that Cd-tolerant bacterial isolate ALT1 can alleviate Cd toxicity on plants by increasing their growth, thus imposing itself as an eco-friendly bio-fertilizer under Cd stress.

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Beqiri-Jashari, Ardiana, Aleksandra Janchevska, Irfan Ahmeti, Filip Doksimovski, Marija Cipanovska, Bojan Teov, Emilija Sukarova Stefanovska, Dijana Plaseska-Karanfilska, and Zoran Gucev. "Alström Syndrome with Early Vision and Hearing Impairement." PRILOZI 43, no. 2 (July 1, 2022): 159–62. http://dx.doi.org/10.2478/prilozi-2022-0028.

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Abstract Alström syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here we report on a 12 year old boy referred to the University Clinic with early signs of impaired hearing and vision, obesity, and scoliosis. Central vision was first affected, followed by peripheral vision. In addition, his weight began increasing after the age of two years, reaching 78 kg at a height of 157 cm (BMI 31.64). No polydactyly was present. His mental development was normal in spite of his hearing and vision impairments. There was acanthosis nigricans on the neck. ECG and the cardiac ultrasound were normal. At the age of 12 years, his testicles are 12 ml and his pubertal status is P2 A2. OGTT revealed impaired glucose tolerance with elevated insulin concentrations 121ulU/mL (reference range 2,00-29,1 ulU/mL). Renal function was unaffected, liver functions were normal. Uric acid and lipids were within normal plasma concentrations. A Whole Exome Sequencing was performed and a homozygous ALMS1 pathogenic, frameshift gene variant (LRG_741t1(ALMS1):c.4156dup; p.Thr1386AsnfsTer15) was determined as the cause of the disease. Both parents were carriers for the variant. The absence of mental retardation and polydactyly differentiates Alström and Bardet-Biedle syndrome.

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Hasenclever, Jochen. "Recovery and Recrystallization Behaviour of AlMn1 - Alloys." Materials Science Forum 396-402 (July 2002): 527–32. http://dx.doi.org/10.4028/www.scientific.net/msf.396-402.527.

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Böcker, A., H. Klein, and H. J. Bunge. "Development of Cross-rolling Textures in AlMn1." Textures and Microstructures 12, no. 1-3 (January 1, 1990): 155–74. http://dx.doi.org/10.1155/tsm.12.155.

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True cross-rolling and pseudo cross-rolling (with only one change of the rolling direction after half of the total deformation degree) was investigated in an alloy AlMn1 up to 93% deformation. The texture formation was studied in terms of ODF. After true cross-rolling (multi-stage rolling) a strong two-component ideal orientation near (011)[322] was found with maximum densities up to 60 times random. Pseudo cross-rolling (two-stage rolling) resulted in weaker, but still strong deformation textures with maximum densities up to twenty times random which were intermediate between unidirectional and true cross-rolling textures. In both cases, the originally present cube texture decreased continuously with increasing deformation degree.

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Collin, G. B., E. Cyr, R. Bronson, J. D. Marshall, E. J. Gifford, W. Hicks, S. A. Murray, et al. "Alms1-disrupted mice recapitulate human Alström syndrome." Human Molecular Genetics 14, no. 16 (July 6, 2005): 2323–33. http://dx.doi.org/10.1093/hmg/ddi235.

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Fan, Jui-Lin, Andrew W. Subudhi, Oghenero Evero, Nicolas Bourdillon, Bengt Kayser, Andrew T. Lovering, and Robert C. Roach. "AltitudeOmics: enhanced cerebrovascular reactivity and ventilatory response to CO2 with high-altitude acclimatization and reexposure." Journal of Applied Physiology 116, no. 7 (April 1, 2014): 911–18. http://dx.doi.org/10.1152/japplphysiol.00704.2013.

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The present study is the first to examine the effect of high-altitude acclimatization and reexposure on the responses of cerebral blood flow and ventilation to CO2. We also compared the steady-state estimates of these parameters during acclimatization with the modified rebreathing method. We assessed changes in steady-state responses of middle cerebral artery velocity (MCAv), cerebrovascular conductance index (CVCi), and ventilation (V̇e) to varied levels of CO2 in 21 lowlanders (9 women; 21 ± 1 years of age) at sea level (SL), during initial exposure to 5,260 m (ALT1), after 16 days of acclimatization (ALT16), and upon reexposure to altitude following either 7 (POST7) or 21 days (POST21) at low altitude (1,525 m). In the nonacclimatized state (ALT1), MCAv and V̇e responses to CO2 were elevated compared with those at SL (by 79 ± 75% and 14.8 ± 12.3 l/min, respectively; P = 0.004 and P = 0.011). Acclimatization at ALT16 further elevated both MCAv and V̇e responses to CO2 compared with ALT1 (by 89 ± 70% and 48.3 ± 32.0 l/min, respectively; P < 0.001). The acclimatization gained for V̇e responses to CO2 at ALT16 was retained by 38% upon reexposure to altitude at POST7 ( P = 0.004 vs. ALT1), whereas no retention was observed for the MCAv responses ( P > 0.05). We found good agreement between steady-state and modified rebreathing estimates of MCAv and V̇e responses to CO2 across all three time points ( P < 0.001, pooled data). Regardless of the method of assessment, altitude acclimatization elevates both the cerebrovascular and ventilatory responsiveness to CO2. Our data further demonstrate that this enhanced ventilatory CO2 response is partly retained after 7 days at low altitude.

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Elliott, Jonathan E., Steven S. Laurie, Julia P. Kern, Kara M. Beasley, Randall D. Goodman, Bengt Kayser, Andrew W. Subudhi, Robert C. Roach, and Andrew T. Lovering. "AltitudeOmics: impaired pulmonary gas exchange efficiency and blunted ventilatory acclimatization in humans with patent foramen ovale after 16 days at 5,260 m." Journal of Applied Physiology 118, no. 9 (May 1, 2015): 1100–1112. http://dx.doi.org/10.1152/japplphysiol.00879.2014.

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A patent foramen ovale (PFO), present in ∼40% of the general population, is a potential source of right-to-left shunt that can impair pulmonary gas exchange efficiency [i.e., increase the alveolar-to-arterial Po2 difference (A-aDO2)]. Prior studies investigating human acclimatization to high-altitude with A-aDO2 as a key parameter have not investigated differences between subjects with (PFO+) or without a PFO (PFO−). We hypothesized that in PFO+ subjects A-aDO2 would not improve (i.e., decrease) after acclimatization to high altitude compared with PFO− subjects. Twenty-one (11 PFO+) healthy sea-level residents were studied at rest and during cycle ergometer exercise at the highest iso-workload achieved at sea level (SL), after acute transport to 5,260 m (ALT1), and again at 5,260 m after 16 days of high-altitude acclimatization (ALT16). In contrast to PFO− subjects, PFO+ subjects had 1) no improvement in A-aDO2 at rest and during exercise at ALT16 compared with ALT1, 2) no significant increase in resting alveolar ventilation, or alveolar Po2, at ALT16 compared with ALT1, and consequently had 3) an increased arterial Pco2 and decreased arterial Po2 and arterial O2 saturation at rest at ALT16. Furthermore, PFO+ subjects had an increased incidence of acute mountain sickness (AMS) at ALT1 concomitant with significantly lower peripheral O2 saturation (SpO2). These data suggest that PFO+ subjects have increased susceptibility to AMS when not taking prophylactic treatments, that right-to-left shunt through a PFO impairs pulmonary gas exchange efficiency even after acclimatization to high altitude, and that PFO+ subjects have blunted ventilatory acclimatization after 16 days at altitude compared with PFO− subjects.

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Tahjib-Ul-Arif, Md, Shintaro Munemasa, Toshiyuki Nakamura, Yoshimasa Nakamura, and Yoshiyuki Murata. "Modulation of frequency and height of cytosolic calcium spikes by plasma membrane anion channels in guard cells." Bioscience, Biotechnology, and Biochemistry 85, no. 9 (June 30, 2021): 2003–10. http://dx.doi.org/10.1093/bbb/zbab118.

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ABSTRACT Cytosolic calcium ([Ca2+]cyt) elevation activates plasma membrane anion channels in guard cells, which is required for stomatal closure. However, involvement of the anion channels in the [Ca2+]cyt elevation remains unclear. We investigated the involvement using Arabidopsis thaliana anion channel mutants, slac1-4 slah3-3 and slac1-4 almt12-1. Extracellular calcium induced stomatal closure in the wild-type plants but not in the anion channel mutant plants whereas extracellular calcium induced [Ca2+]cyt elevation both in the wild-type guard cells and in the mutant guard cells. The peak height and the number of the [Ca2+]cyt spike were lower and larger in the slac1-4 slah3-3 than in the wild type and the height and the number in the slac1-4 almt12-1 were much lower and much larger than in the wild type. These results suggest that the anion channels are involved in the regulation of [Ca2+]cyt elevation in guard cells.

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Kılınç, Suna, Didem Yücel-Yılmaz, Aylin Ardagil, Süheyla Apaydın, Diana Valverde, Rıza Köksal Özgül, and Ayla Güven. "Five novel ALMS1 gene mutations in six patients with Alström syndrome." Journal of Pediatric Endocrinology and Metabolism 31, no. 6 (June 27, 2018): 681–87. http://dx.doi.org/10.1515/jpem-2017-0418.

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Abstract Background: Alström syndrome is a rare autosomal recessive inherited disorder caused by mutations in the ALMS1 gene. Methods: We describe the clinical and five novel mutational screening findings in six patients with Alström syndrome from five families in a single center with distinct clinical presentations of this condition. Results: Five novel mutations in ALMS1 in exon 8 and intron 17 were identified, one of them was a compound heterozygous: c.2259_2260insT, p.Glu754*; c.2035C>T p.Arg679*; c.2259_2260insT, p.Glu754*; c.5969C>G, p.Ser1990*; c.6541C>T, p. Gln2181*/c.11666-2A>G, splicing. One patient had gallstones, this association, to our knowledge, has not been reported in Alström syndrome previously. Conclusions: Early diagnosis of Alström syndrome is often difficult in children and adolescents, because many of the clinical features develop over time. Early diagnosis can initiate an effective managemen of this condition, and it will help to reduce future damage.

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Mrdak, Mihailo, Časlav Lačnjevac, Marko Rakin, Đorđe Janaćković, Darko Veljić, and Darko Bajić. "Characterization of deposited plasma spray NiCrAlCoY2O3 coating layers on AlMg1 alloy substrates." Zastita materijala 62, no. 1 (2021): 34–40. http://dx.doi.org/10.5937/zasmat2101034m.

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In this paper, analyzed are the effects of the plasma spray distance on the microstructure and mechanical properties of the NiCrAlCoY2O3 coating layers deposited at atmospheric pressure. The microstructure and mechanical properties of the coating layers are under the influence of the interaction of plasma particles (ions and electrons) with powder particles, providing the transfer of velocity and temperature of the plasma particles onto the powder particles. The effect of the interaction is directly dependent on the time the powder particles were present in the plasma which is defined by distance of the plasma gun from the substrate, depending on the granulation of the powder, the melting point and specific gravity. In order to obtain homogeneous and denser coating layers with high adhesion, in the experiment three distances from the substrate were used: 95 mm, 105 mm and 115 mm. The layers were deposited on thin sheets of AlMg1 aluminum thickness of 0.6 mm. Evaluation of mechanical properties of the layers was carried out by examining microhardness using the HV0.1 method and the bond strength by tensile testing. The morphology of the powder particles was examined on the SEM, while the microstructure of the layers was evaluated under a light microscope in accordance with the Pratt Whitney standard. The results of the experiment showed that the distance from the substrate substantially influenced the structure and mechanical properties of the coating layers. The best deposited layers were examined in the system with the ZrO224%MgO ceramic coating, which have proved to be reliable protectionfrom high temperature and abrasive rocket jet fuel.

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Bea-Mascato, Brais, Carlos Solarat, Irene Perea-Romero, Teresa Jaijo, Fiona Blanco-Kelly, José M. Millán, Carmen Ayuso, and Diana Valverde. "Prevalent ALMS1 Pathogenic Variants in Spanish Alström Patients." Genes 12, no. 2 (February 16, 2021): 282. http://dx.doi.org/10.3390/genes12020282.

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Alström syndrome (ALMS) is an ultrarare disease with an estimated prevalence lower than 1 in 1,000,000. It is associated with disease-causing mutations in the Alström syndrome 1 (ALMS1) gene, which codifies for a structural protein of the basal body and centrosomes. The symptomatology involves nystagmus, type 2 diabetes mellitus (T2D), obesity, dilated cardiomyopathy (DCM), neurodegenerative disorders and multiorgan fibrosis. We refined the clinical and genetic diagnosis data of 12 patients from 11 families, all of them from Spain. We also studied the allelic frequency of the different variants present in this cohort and performed a haplotype analysis for the most prevalent allele. The genetic analysis revealed 2 novel homozygous variants located in the exon 8, p.(Glu929Ter) and p.(His1808GlufsTer20) in 2 unrelated patients. These 2 novel variants were classified as pathogenic after an in silico experiment (computer analysis). On the other hand, 2 alleles were detected at a high frequency in our cohort: p.(Tyr1714Ter) (25%) and p.(Ser3872TyrfsTer19) (16.7%). The segregation analysis showed that the pathogenic variant p.(Tyr1714Ter) in 3 families is linked to a rare missense polymorphism, p.(Asn1787Asp). In conclusion, 2 novel pathological mutations have been discovered in homozygosis, as well as a probable founder effect in 3 unrelated families.

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Dehghan, Roghayeh, Mahdiyeh Behnam, Mansoor Salehi, and Roya Kelishadi. "Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome." Case Reports in Ophthalmological Medicine 2022 (July 21, 2022): 1–6. http://dx.doi.org/10.1155/2022/6110775.

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Bardet–Biedl syndrome is a rare autosomal recessive form of syndromic obesity which is characterized by retinal degeneration, obesity, polydactyly, cognitive impairment, and renal and urogenital anomalies. In this study, we used whole-exome sequencing (WES) to investigate the underlying mutations in four Iranian children from consanguineous families with a clinical diagnosis of Bardet–Biedl syndrome (BBS). In three out of four children, we identified one previously reported frameshifting variant in the BBS12 gene (c.265-266delTT, p.L89fs) and two novel nonsense variants in MKKS (c.1196T>G, p.L399X) and BBS7 genes (c.1636C>T, p.Q546X). In the other child, no mutations were detected in known genes for BBS. However, we identified a novel variant in the ALMS1 gene (c.10996delC, p.Q3666fs) indicative of Alström syndrome. All variants were interpreted as pathogenic according to American College of Medical Genetics and Genomics (ACMG) guidelines and confirmed through Sanger sequencing. In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome.

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Palmer, Antony J., Alison Baker, and Stephen P. Muench. "The varied functions of aluminium-activated malate transporters–much more than aluminium resistance." Biochemical Society Transactions 44, no. 3 (June 9, 2016): 856–62. http://dx.doi.org/10.1042/bst20160027.

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The ALMT (aluminium-activated malate transporter) family comprises a functionally diverse but structurally similar group of ion channels. They are found ubiquitously in plant species, expressed throughout different tissues, and located in either the plasma membrane or tonoplast. The first family member identified was TaALMT1, discovered in wheat root tips, which was found to be involved in aluminium resistance by means of malate exudation into the soil. However, since this discovery other family members have been shown to have many other functions such as roles in stomatal opening, general anionic homoeostasis, and in economically valuable traits such as fruit flavour. Recent evidence has also shown that ALMT proteins can act as key molecular actors in GABA (γ-aminobutyric acid) signalling, the first evidence that GABA can act as a signal transducer in plants.

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Journal articles on the topic 'ALMT1'

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