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Journal articles on the topic 'Male phenotype'

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Author: Grafiati

Published: 10 March 2023

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1

Goulding, Eugenia H., Sylvia C. Hewitt, Noriko Nakamura, Katherine Hamilton, Kenneth S. Korach, and Edward M. Eddy. "Ex3αERKO male infertility phenotype recapitulates the αERKO male phenotype." Journal of Endocrinology 207, no. 3 (September 10, 2010): 281–88. http://dx.doi.org/10.1677/joe-10-0290.

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Disruption of the Esr1 gene encoding estrogen receptor α (ERα) by insertion of a neomycin resistance gene (neo) into exon 2 (αERKO mice) was shown previously to cause infertility in male mice. While full-length ERα protein was not expressed in αERKO mice, alternative splicing resulted in the low-level expression of a truncated form lacking the N-terminus A/B domain and containing the DNA- and ligand-binding domains. Thus, it was unclear whether the reproductive phenotype in αERKO males was only due to the lack of full-length ERα or was affected by the presence of the variant ERα isoform. The present study examined male mice with deletion of exon 3 of Esr1 gene, lacking the DNA-binding domain, and null for ERα (Ex3αERKO). Dilation of some seminiferous tubules was apparent in male Ex3αERKO mice as early as postnatal day 10 and was pronounced in all tubules from day 20 onward. At 6 weeks of age, sperm numbers and sperm motility were lower in Ex3αERKO mice than in wild-type (WT) mice, and the rete testis and efferent ductules were dilated. Mating studies determined that adult Ex3αERKO males were infertile and failed to produce copulatory plugs. Serum testosterone levels and Hsd17b3 and Cyp17a1 transcript levels were significantly higher, but serum estradiol, progesterone, LH, and FSH levels and Cyp19a1 transcript levels were not significantly different from those in WT mice. These results confirm and extend those seen in other studies on male mice with deletion of exon 3 of Esr1 gene. In addition, the reproductive phenotype of male Ex3αERKO mice recapitulated the phenotype of αERKO mice, strongly suggesting that the αERKO male infertility was not due to the presence of the DNA-binding domain in the truncated form of ERα and that full-length ERα is essential for maintenance of male fertility.

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2

Van Gossum, H., T. Robb, M. R. Forbes, and L. Rasmussen. "Female-limited polymorphism in a widespread damselfly: morph frequencies, male density, and phenotypic similarity of andromorphs to males." Canadian Journal of Zoology 86, no. 10 (October 2008): 1131–38. http://dx.doi.org/10.1139/z08-091.

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In several animal species, one male type coexists with two to several female types, a polymorphism often explained in the context of sexual selection. Where it occurs, one female morph typically resembles the conspecific male phenotype, but the degree of resemblance varies across species. Here, we question whether the degree of phenotypic similarity between male-like females and males varies within species. Phenotypic resemblance is hypothesized to depend on the potential for frequency- and density-dependent selection on male and (or) female phenotypes. We studied six populations of the damselfly Nehalennia irene (Hagen, 1861) that differed widely in estimates of morph frequency and male density. Male-like females resemble males more than another female type resembles males, across populations, when comparisons are based on abdominal patterns. Abdomen phenotype does matter in male–female interactions of damselflies. Furthermore, male-like females were more similar to males at low and high density sites compared with sites with intermediate densities, contrary to the hypothesis that the potential for male harassment influences the degree of phenotypic similarity. Additionally, male-like females of most populations converged on the abdominal phenotype of males of one population rather than on that of syntopic males; a problem that has not received any attention.

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3

Zubairi, Mohammad S., Ronald F. Carter, and Gabriel M. Ronen. "A Male Phenotype With Aicardi Syndrome." Journal of Child Neurology 24, no. 2 (January 30, 2009): 204–7. http://dx.doi.org/10.1177/0883073808322337.

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4

Wagner, Ida Janelle. "TallyHo Diabetic Phenotype Limited to Male Mice." Plastic and Reconstructive Surgery 129, no. 4 (April 2012): 727e. http://dx.doi.org/10.1097/prs.0b013e318245eaff.

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5

Tansuğ, Z., Ş. Doran, F. Doran, S. N. Lloyd, U. Erken, and R. K. Türkyilmaz. "Intrascrotal Uterus in a Normal Male Phenotype." European Urology 21, no. 2 (1992): 168. http://dx.doi.org/10.1159/000474827.

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6

Pilastro, Andrea, Jonathan P. Evans, Silvia Sartorelli, and Angelo Bisazza. "Male phenotype predicts insemination success in guppies." Proceedings of the Royal Society of London. Series B: Biological Sciences 269, no. 1498 (July 7, 2002): 1325–30. http://dx.doi.org/10.1098/rspb.2002.2017.

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7

Wilson, T. A., S. S. Wachtel, S. Howards, J. Lininger, and A. Johanson. "H-Y Intermediate Phenotype in Male Pseudohermaphroditism." Journal of Urology 137, no. 4 (April 1987): 814. http://dx.doi.org/10.1016/s0022-5347(17)44242-x.

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8

Wilson, Thomas A., Stephen S. Wachtel, Stuart Howards, John Lininger, and Ann Johanson. "H-Y intermediate phenotype in male pseudohermaphroditism." Journal of Pediatrics 109, no. 5 (November 1986): 815–19. http://dx.doi.org/10.1016/s0022-3476(86)80699-0.

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9

Fuxjager, Matthew J., Meredith C. Miles, and Barney A. Schlinger. "Evolution of the androgen-induced male phenotype." Journal of Comparative Physiology A 204, no. 1 (October 12, 2017): 81–92. http://dx.doi.org/10.1007/s00359-017-1215-3.

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10

Mauhin, Wladimir, Abdellah Tebani, Damien Amelin, Lenaig Abily-Donval, Foudil Lamari, Jonathan London, Claire Douillard, et al. "Sphingosine-1-Phosphate Levels Are Higher in Male Patients with Non-Classic Fabry Disease." Journal of Clinical Medicine 11, no. 5 (February 24, 2022): 1233. http://dx.doi.org/10.3390/jcm11051233.

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Fabry disease is an X-linked lysosomal disease in which defects in the alpha-galactosidase A enzyme activity lead to the ubiquitous accumulation of glycosphingolipids. Whereas the classic disease is characterized by neuropathic pain, progressive renal failure, white matter lesions, cerebral stroke, and hypertrophic cardiomyopathy (HCM), the non-classic phenotype, also known as cardiac variant, is almost exclusively characterized by HCM. Circulating sphingosine-1-phosphate (S1P) has controversially been associated with the Fabry cardiomyopathy. We measured serum S1P levels in 41 patients of the FFABRY cohort. S1P levels were higher in patients with a non-classic phenotype compared to those with a classic phenotype (200.3 [189.6–227.9] vs. 169.4 ng/mL [121.1–203.3], p = 0.02). In a multivariate logistic regression model, elevated S1P concentration remained statistically associated with the non-classic phenotype (OR = 1.03; p < 0.02), and elevated lysoGb3 concentration with the classic phenotype (OR = 0.95; p < 0.03). S1P levels were correlated with interventricular septum thickness (r = 0.46; p = 0.02). In a logistic regression model including S1P serum levels, phenotype, and age, age remained the only variable significantly associated with the risk of HCM (OR = 1.25; p = 0.001). S1P alone was not associated with cardiac hypertrophy but with the cardiac variant. The significantly higher S1P levels in patients with the cardiac variant compared to those with classic Fabry suggest the involvement of distinct pathophysiological pathways in the two phenotypes. S1P dosage could allow the personalization of patient management.

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11

Moser, Lukas, Silvan Hess, Henrik Behrend, and Michael Hirschmann. "Variability of functional knee phenotypes in osteoarthritic knees shows that a more personalized approach in TKA is needed." Orthopaedic Journal of Sports Medicine 8, no. 5_suppl4 (May 1, 2020): 2325967120S0030. http://dx.doi.org/10.1177/2325967120s00300.

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Aims and Objectives: Recently, the functional knee phenotype concept was introduced as a new system to classify the coronal alignment of the lower limb. Until now, this concept has only been applied to non-osteoarthritic knees. The purpose of this study was therefore to phenotype osteoarthritic knees according to this concept and investigate the distribution of these phenotypes. Materials and Methods: Preoperative CT scans of osteoarthritic knees scheduled for TKA collected between January 2017 and December 2019 in the KneePLAN 3D database (Symbios Orthopédie S.A.) were reviewed for patients meeting the following inclusion criteria: age>50 and <90, no signs of previous fractures, osteotomies and rheumatoid arthritis. A total of 2764 patients (1438 right and 1326 left lower limbs, Male:female ratio 1096 :1668) with a mean age ± standard deviation of 70±8.5years (range 50-90 years) were included. The following coronal alignment parameters were measured using a validated software (KneePLAN 3D, Symbios Orthopédie S.A): hip-knee-ankle angle (HKA), femoral mechanical angle (FMA), and tibial mechanical angle (TMA). Based on these measurements each leg was phenotyped according to the functional knee phenotype concept and the distribution of these phenotypes assessed. A phenotype thereby consists of a phenotype specific mean value (HKA, FMA or TMA value) and covers a range of ± 1.5° from this mean (e.g. 180°± 1.5). The phenotype specific mean values represent 3° increments of the angle starting from the rounded overall mean value of the angle. Results: There were 162 different functional knee phenotypes (122 male, 138 female and 97 mutual). The most common functional knee phenotype in males was VARHKA6°VARFMA3°NEUTMA0° accounting for 8% of all males. The most common functional knee phenotype in females was VARHKA3°NEUFMA0°NEUTMA0° accounting for 9% of the population. The ten most common functional phenotypes account for 50% and 42.8% of all females and males, respectively. Overall, 134 phenotypes accounted each for less than 1% of the total population (all 134 together for 26.4%). Conclusion: The broad variability of functional knee phenotypes in osteoarthritic knees shows that a more personalized TKA realignment strategy is needed. The challenge will be to identify the optimal alignment strategy for each functional knee phenotype.

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12

Mirhosseini, M. A., J. P. Michaud, M. A. Jalali, and M. Ziaaddini. "Paternal effects correlate with female reproductive stimulation in the polyandrous ladybirdCheilomenes sexmaculata." Bulletin of Entomological Research 104, no. 4 (March 24, 2014): 480–85. http://dx.doi.org/10.1017/s0007485314000194.

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AbstractComponents of male seminal fluids are known to stimulate fecundity and fertility in females of numerous insect species and paternal effects on offspring phenotype are also known, but no studies have yet demonstrated links between male effects on female reproduction and those on progeny phenotype. In separate laboratory experiments employing 10-day-old virgin females ofCheilomenes sexmaculata(F.), we varied male age and mating history to manipulate levels of male allomones and found that the magnitude of paternal effects on progeny phenotype was correlated with stimulation of female reproduction. Older virgin males remained in copula longer than younger ones, induced higher levels of female fecundity, and sired progeny that developed faster to yield heavier adults. When male age was held constant (13 days), egg fertility declined as a function of previous male copulations, progeny developmental times increased, and the adult weight of daughters declined. These results suggest that male epigenetic effects on progeny phenotype act in concert with female reproductive stimulation; both categories of effects increased as a consequence of male celibacy (factor accumulation), and diminished as a function of previous matings (factor depletion). Male factors that influence female reproduction are implicated in sexual conflict and parental effects may extend this conflict to offspring phenotype. Whereas mothers control the timing of oviposition events and can use maternal effects to tailor progeny phenotypes to prevailing or anticipated conditions, fathers cannot. Since females remate and dilute paternity in polyandrous systems, paternal fitness will be increased by linking paternal effects to female fecundity stimulation, so that more benefits accrue to the male's own progeny.

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13

Welt, Corrine K. "What Is the Male Polycystic Ovary Syndrome Phenotype?" Journal of Clinical Endocrinology & Metabolism 107, no. 5 (December 14, 2021): e2188-e2189. http://dx.doi.org/10.1210/clinem/dgab898.

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14

Bale, Patricia M., Neville J. Howard, and James E. Wright. "Male Pseudohermaphroditism in XY Children with Female Phenotype." Pediatric Pathology 12, no. 1 (January 1992): 29–49. http://dx.doi.org/10.3109/15513819209023279.

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15

Vilain, E., B. Le Fiblec, N. Morichon-Delvallez, R. Brauner, M. Dommergues, Y. Dumez, F. Jaubert, et al. "SRY-negative XX fetus with complete male phenotype." Lancet 343, no. 8891 (January 1994): 240–41. http://dx.doi.org/10.1016/s0140-6736(94)91029-4.

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16

Malik, Vinod, Dinesh Gupta, Amba Lal Salvi, and Meenu Gill. "Seminoma in a Male Phenotype 46XX True Hermaphrodite." Asian Journal of Surgery 30, no. 1 (January 2007): 85–87. http://dx.doi.org/10.1016/s1015-9584(09)60136-6.

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17

Morris, Colleen A., Janice C. Palumbos, John C. Carey, John M. Opitz, and James F. Reynolds. "Delineation of the male phenotype in craniofrontonasal syndrome." American Journal of Medical Genetics 27, no. 3 (July 1987): 623–31. http://dx.doi.org/10.1002/ajmg.1320270315.

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18

Fowler-Finn, Kasey D., Laura Sullivan-Beckers, Amy M. Runck, and Eileen A. Hebets. "The complexities of female mate choice and male polymorphisms: Elucidating the role of genetics, age, and mate-choice copying." Current Zoology 61, no. 6 (December 1, 2015): 1015–35. http://dx.doi.org/10.1093/czoolo/61.6.1015.

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Abstract Genetic, life history, and environmental factors dictate patterns of variation in sexual traits within and across populations, and thus the action and outcome of sexual selection. This study explores patterns of inheritance, diet, age, and mate-choice copying on the expression of male sexual signals and associated female mate choice in a phenotypically diverse group of Schizocosa wolf spiders. Focal spiders exhibit one of two male phenotypes: ‘ornamented’ males possess large black brushes on their forelegs, and ‘non-ornamented’ males possess no brushes. Using a quantitative genetics breeding design in a mixed population of ornamented/non-ornamented males, we found a strong genetic basis to male phenotype and female choice. We also found that some ornamented males produced some sons with large brushes and others with barely visible brushes. Results of diet manipulations and behavioral mating trials showed no influence of diet on male phenotype or female mate choice. Age post maturation, however, influenced mate choice, with younger females being more likely to mate with ornamented males. A mate-choice copying experiment found that, following observations of another female’s mate choice/copulation, virgin mature females tended to match the mate choice (ornamented vs. non-ornamented males) of the females they observed. Finally, analyses of genetic variation across phenotypically pure (only one male phenotype present) vs. mixed (both phenotypes present) populations revealed genetic distinction between phenotypes in phenotypically-pure populations, but no distinctionin phenotypically-mixed populations. The difference in patterns of genetic differentiation and mating across geographic locations suggests a complex network of factors contributing to the outcome of sexual selection.

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19

Garcia-Arocena, Dolores, Jane E. Yang, Judith R. Brouwer, Flora Tassone, Christine Iwahashi, Elizabeth M. Berry-Kravis, Christopher G. Goetz, et al. "Fibroblast phenotype in male carriers of FMR1 premutation alleles." Human Molecular Genetics 19, no. 2 (November 11, 2009): 299–312. http://dx.doi.org/10.1093/hmg/ddp497.

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20

Maroto-Morales, A., M. Ramón, O. García-Álvarez, V. Montoro, A. J. Soler, M. R. Fernández-Santos, E. R. S. Roldan, M. D. Pérez-Guzmán, and J. J. Garde. "Sperm head phenotype and male fertility in ram semen." Theriogenology 84, no. 9 (December 2015): 1536–41. http://dx.doi.org/10.1016/j.theriogenology.2015.07.038.

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21

Mallet, Martin A., Christopher M. Kimber, and Adam K. Chippindale. "Susceptibility of the male fitness phenotype to spontaneous mutation." Biology Letters 8, no. 3 (November 16, 2011): 426–29. http://dx.doi.org/10.1098/rsbl.2011.0977.

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Adult reproductive success can account for a large fraction of male fitness, however, we know relatively little about the susceptibility of reproductive traits to mutation-accumulation (MA). Estimates of the mutational rate of decline for adult fitness and its components are controversial in Drosophila melanogaster , and post-copulatory performance has not been examined. We therefore separately measured the consequences of MA for total male reproductive success and its major pre-copulatory and post-copulatory components: mating success and sperm competitive success. We also measured juvenile viability, an important fitness component that has been well studied in MA experiments. MA had strongly deleterious effects on both male viability and adult fitness, but the latter declined at a much greater rate. Mutational pressure on total fitness is thus much greater than would be predicted by viability alone. We also noted a significant and positive correlation between all adult traits and viability in the MA lines, suggesting pleiotropy of mutational effect as required by ‘good genes’ models of sexual selection.

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ANTZELEVITCH, CHARLES. "Androgens and Male Predominance of the Brugada Syndrome Phenotype." Pacing and Clinical Electrophysiology 26, no. 7p1 (July 2003): 1429–31. http://dx.doi.org/10.1046/j.1460-9592.2003.t01-1-00206.x.

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23

Waterman, Michael R., and Diane S. Keeney. "Genes Involved in Androgen Biosynthesis and the Male Phenotype." Hormone Research 38, no. 5-6 (1992): 217–21. http://dx.doi.org/10.1159/000182546.

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24

Canal, David, José Dávila, and Jaime Potti. "Male phenotype predicts extra-pair paternity in pied flycatchers." Behaviour 148, no. 5-6 (2011): 691–712. http://dx.doi.org/10.1163/000579511x573917.

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25

Harrison, Susan M. W., and Suzanne Roffler-Tarlov. "Male-sterile phenotype of the neurological mouse mutant weaver." Developmental Dynamics 200, no. 1 (May 1994): 26–38. http://dx.doi.org/10.1002/aja.1002000104.

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26

Koseki, Yusuke, and Ian A. Fleming. "Large-scale frequency dynamics of alternative male phenotypes in natural populations of coho salmon (Oncorhynchus kisutch): patterns, processes, and implications." Canadian Journal of Fisheries and Aquatic Sciences 64, no. 4 (April 1, 2007): 743–53. http://dx.doi.org/10.1139/f07-046.

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Using over 20 years of annual spawner survey data collected from 46 natural populations of coastal Oregon coho salmon (Oncorhynchus kisutch), we examined large-scale spatial and temporal dynamics of alternative male pheno types (age-3 hooknoses and age-2 jacks). Fluctuations in jack and hooknose abundance were synchronous among populations (i.e., region-wide synchrony), similar to patterns seen previously in Oregon hatchery populations and indicative of oceanic processes operating at large spatial and temporal scales. By contrast, regional-scale synchrony in the ratio of jack to hooknose males was likely attributable to the influences of the freshwater environment. Moreover, within-population variation in phenotype ratio was lower by brood year than by return year (i.e., weak cohort relationship), contrary to previous patterns in hatchery populations. The spatial and temporal patterns of phenotype ratio observed in natural populations but not in hatchery populations, where freshwater effects were statistically controlled, indicate that the frequency dynamics of coho male alternative phenotypes are influenced more strongly by freshwater than by marine processes. The environmentally induced variability in phenotype ratio suggests that there may be constant perturbations of fitness functions for alternative phenotypes, such that the system should be less stable than predicted from the status-dependent selection model with fixed fitness functions.

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27

Chiò, Adriano, Cristina Moglia, Antonio Canosa, Umberto Manera, Fabrizio D'Ovidio, Rosario Vasta, Maurizio Grassano, et al. "ALS phenotype is influenced by age, sex, and genetics." Neurology 94, no. 8 (January 6, 2020): e802-e810. http://dx.doi.org/10.1212/wnl.0000000000008869.

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ObjectiveTo assess the determinants of amyotrophic lateral sclerosis (ALS) phenotypes in a population-based cohort.MethodsThe study population included 2,839 patients with ALS diagnosed in Piemonte, Italy (1995–2015). Patients were classified according to motor (classic, bulbar, flail arm, flail leg, predominantly upper motor neuron [PUMN], respiratory) and cognitive phenotypes (normal, ALS with cognitive impairment [ALSci], ALS with behavioral impairment [ALSbi], ALSci and ALSbi combined [ALScbi], ALS–frontotemporal dementia [FTD]). Binary logistic regression analysis was adjusted for sex, age, and genetics.ResultsBulbar phenotype correlated with older age (p < 0.0001), women were more affected than men at increasing age (p < 0.0001), classic with younger age (p = 0.029), men were more affected than women at increasing age (p < 0.0001), PUMN with younger age (p < 0.0001), flail arm with male sex (p < 0.0001) and younger age (p = 0.04), flail leg with male sex with increasing age (p = 0.008), and respiratory with male sex (p < 0.0001). C9orf72 expansions correlated with bulbar phenotype (p < 0.0001), and were less frequent in PUMN (p = 0.041); SOD1 mutations correlated with flail leg phenotype (p < 0.0001), and were less frequent in bulbar (p < 0.0001). ALS-FTD correlated with C9orf72 (p < 0.0001) and bulbar phenotype (p = 0.008), ALScbi with PUMN (p = 0.014), and ALSci with older age (p = 0.008).ConclusionsOur data suggest that the spatial–temporal combination of motor and cognitive events leading to the onset and progression of ALS is characterized by a differential susceptibility to the pathologic process of motor and prefrontal cortices and lower motor neurons, and is influenced by age, sex, and gene variants. The identification of those factors that regulate ALS phenotype will allow us to reclassify patients into pathologically homogenous subgroups, responsive to targeted personalized therapies.

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Sherlaw-Sturrock, Charlotte Ann, Sarah Graham, Anita Morgan, Lisa Reali, and Swati Naik. "Xq21.1q21.31 Duplication in Two Male Siblings." Molecular Syndromology 13, no. 2 (November 1, 2021): 152–58. http://dx.doi.org/10.1159/000518933.

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Despite the increased use of array comparative genomic hybridisation, duplications of Xq remain rarely reported in the literature. Xq21.1q21.31 duplication has previously been reported only once in a boy with features of Prader Willi syndrome (PWS). We report 2 malesiblings with maternally inherited duplication of Xq21.1q21.31 who demonstrate a variable phenotype. The proband has Prader Willi-like features such as global developmental delay, autism, obesity, short hands, and small genitalia with a history of food seeking behaviour, while his younger brother has isolated speech delay with some autistic features under evaluation. Both siblings have features such as bitemporal narrowing and small hands. It is therefore likely that the phenotype of duplications in this region is broader than PWS phenocopy, and further cases would be required to elucidate this.

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29

McLean, A. H. C., J. Hrček, B. J. Parker, H. Mathé-Hubert, H. Kaech, C. Paine, and H. C. J. Godfray. "Multiple phenotypes conferred by a single insect symbiont are independent." Proceedings of the Royal Society B: Biological Sciences 287, no. 1929 (June 17, 2020): 20200562. http://dx.doi.org/10.1098/rspb.2020.0562.

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Many microbial symbionts have multiple phenotypic consequences for their animal hosts. However, the ways in which different symbiont-mediated phenotypes combine to affect fitness are not well understood. We investigated whether there are correlations between different symbiont-mediated phenotypes. We used the symbiont Spiroplasma , a striking example of a bacterial symbiont conferring diverse phenotypes on insect hosts. We took 11 strains of Spiroplasma infecting pea aphids ( Acyrthosiphon pisum ) and assessed their ability to provide protection against the fungal pathogen Pandora neoaphidis and the parasitoids Aphidius ervi and Praon volucre . We also assessed effects on male offspring production for five of the Spiroplasma strains. All but one of the Spiroplasma strains provided very strong protection against the parasitoid P. volucre . As previously reported, variable protection against P. neoaphidis and A. ervi was also present; male-killing was likewise a variable phenotype. We find no evidence of any correlation, positive or negative, between the different phenotypes, nor was there any evidence of an effect of symbiont phylogeny on protective phenotype. We conclude that multiple symbiont-mediated phenotypes can evolve independently from one another without trade-offs between them.

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Kumar, KHitesh, G. Sangeeta, S. Venkat, and MHayath Sikinder. "Classical Bombay phenotype in a 26-year-old male donor." Journal of Clinical and Scientific Research 5, no. 3 (2016): 198. http://dx.doi.org/10.15380/2277-5706.jcsr.15.053.

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31

Brunner, Susanne. "Galanin-receptor-3-deficient male mice exhibit anxiety-like phenotype." Intrinsic Activity 1, Suppl. 1 (October 1, 2013): A1.4. http://dx.doi.org/10.25006/ia.1.s1-a1.4.

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32

Pitcher, Trevor E., and Jonathan P. Evans. "Male phenotype and sperm number in the guppy (Poecilia reticulata)." Canadian Journal of Zoology 79, no. 10 (October 1, 2001): 1891–96. http://dx.doi.org/10.1139/z01-142.

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The idea that female mate choice might be adaptive is relatively easy to understand in species with resource-based mating systems in which females gain access to a territory, food, or other forms of parental care from the males with whom they mate. In contrast, the evolution of female mate choice in species exhibiting resource-free mating systems remains controversial. One such species in which males contribute nothing but sperm during mating is the guppy (Poecilia reticulata). Here, we examined whether female guppies can obtain information on male fertility (i.e., direct fertility benefits) via cues used during mate choice. Specifically, we examined whether male guppy colour patterns, body size, and mating behaviour signal their functional fertility, that is, their ability to supply a large number of sperm at copulation. We found significant correlations between male phenotype parameters and the number of sperm in male guppies originating from two wild Trinidadian populations. There were, however, significant interpopulation differences with respect to which traits were good predictors of sperm load. In the low-predation Paria River population, larger males and males with relatively more carotenoid colouration had significantly larger sperm loads, but mating behaviour (i.e., sigmoids) and melanin colouration were not good predictors of sperm load. In the high-predation Tacarigua River population, larger males, males that displayed more, and males with less yellow colouration had significantly more sperm, but other colour pattern components (area of orange and black colouration) were not good predictors of sperm load. Overall, our results suggest that there is the potential for direct fertility benefits through mate choice in the promiscuous, non-resource-based mating system of the guppy.

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Ronen, Gabriel M., Mohammad Zubairi, and Ronald F. Carter. "Response to Correspondence on ‘‘A Male Phenotype With Aicardi Syndrome’’." Journal of Child Neurology 24, no. 12 (December 2009): 1579–80. http://dx.doi.org/10.1177/0883073809345399.

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34

Kuiper, H., N. Blum, and O. Distl. "An XY Agonadal Oldenburg Warmblood Horse Exhibiting a Male Phenotype." Sexual Development 4, no. 6 (2010): 348–51. http://dx.doi.org/10.1159/000321075.

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35

MALAVAUD, BERNARD, CATHERINE MAZEROLLES, ERIC BIETH, CHRISTINE CHEVREAU, MARIE-AUDE LE FRERE, and LAURENT ALRIC. "PURE SEMINOMA IN A MALE PHENOTYPE 46,XX TRUE HERMAPHRODITE." Journal of Urology 164, no. 1 (July 2000): 125–26. http://dx.doi.org/10.1016/s0022-5347(05)67467-8.

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36

Paik, S. H., H. H. Cho, H. C. Jeon, S. J. Jo, and O. S. Kwon. "Iatrogenic androgenetic alopecia in a male phenotype 46XX true hermaphrodite." British Journal of Dermatology 166, no. 1 (September 29, 2011): 221–22. http://dx.doi.org/10.1111/j.1365-2133.2011.10511.x.

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Holman, Sarah K., Phil Daniel, Zandra A. Jenkins, Rachel L. Herron, Tim Morgan, Ravi Savarirayan, C. W. Chow, et al. "The male phenotype in osteopathia striata congenita with cranial sclerosis." American Journal of Medical Genetics Part A 155, no. 10 (August 16, 2011): 2397–408. http://dx.doi.org/10.1002/ajmg.a.34178.

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38

Wang, Huiling, Mian Lv, Yonghong Huang, Xiaoming Pan, and Changyuan Wei. "Identification of Circulating Tumor Cell Phenotype in Differentiated Thyroid Carcinoma." Journal of Biomaterials and Tissue Engineering 12, no. 4 (April 1, 2022): 813–19. http://dx.doi.org/10.1166/jbt.2022.2957.

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Objective: Circulating tumor cells (CTCs) have been considered as the origin of tumor metastasis and recurrence, which always indicate a poor prognosis. There are three phenotypes of CTCs according on different epithelial-to-mesenchymal transition (EMT) markers, including epithelial, mesenchymal, and epithelial/mesenchymal (mixed phenotypic) CTCs. We intended to explore the relationship among CTC phenotypes and the clinicopathological characteristics of patients with differentiated thyroid carcinoma (DTC). Methods: Peripheral blood samples from 58 patients with DTC were collected, and CTCs were isolated by cell sizes. To identify phenotypes of CTCs, branched DNA signal amplification technology was adopted to capture and amplify target sequences, and then multiplex RNA-in situ hybridization (RNA-ISH) assay was used to identify CTC phenotypes depended on epithelial-mesenchymal transition (EMT) markers. Results: The positive rate of CTCs was 77.59% in 58 DTC patients. Totally, 488 CTCs with detective phenotype were found. Among them, there were 121 (24.80%) epithelial CTCs, 67 (13.72%) mesenchymal CTCs, and 300 (61.48%) mixed phenotypic CTCs. An obvious increased epithelial CTCs was observed in male patients compared with female. Notably, CTCs were more prevailing in younger male patients with ETI and bilateral focus. Conclusions: The CTCs are common in DTC patients, and mixed phenotypic is the major phenotype, indicating that EMT is prevalent in DTC even though its prognosis was better than other epithelial tumors. Detection of CTC and its phenotypes might independently predict the prognosis of DTC.

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Affara, Nabeel A. "The role of the Y chromosome in male infertility." Expert Reviews in Molecular Medicine 3, no. 3 (January 3, 2001): 1–16. http://dx.doi.org/10.1017/s1462399401002319.

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It was suggested by Ronald Fisher in 1931 that genes that benefit the male (including those required for spermatogenesis) would accumulate on the Y chromosome. Following the discovery that microdeletions of the Y chromosome were associated with diverse spermatogenic phenotypes, at least three intervals that contain one or more genes controlling male germ-cell differentiation have been identified in humans. These intervals, named AZFa, AZFb and AZFc, have been mapped, cloned and examined in detail for the presence of functional genes. In this review, I have discussed the genes that map to the AZF intervals and the evidence indicating which ones are the most likely candidates underlying Y-linked male infertility. In addition, I have considered the analysis of key intervals on the mouse Y chromosome, where it provides comparative data supporting the role of a candidate gene in an infertility phenotype.

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40

d’Uscio, Livius V., and Zvonimir S. Katusic. "Vascular phenotype of amyloid precursor protein-deficient mice." American Journal of Physiology-Heart and Circulatory Physiology 316, no. 6 (June 1, 2019): H1297—H1308. http://dx.doi.org/10.1152/ajpheart.00539.2018.

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The amyloid precursor protein (APP) is expressed in the blood vessel wall, but the physiological function of APP is not completely understood. Previous studies established that APP has amine oxidase activity responsible for degradation of catecholamines. In the present study, we characterized the vascular phenotype of APP-knockout (APP−/−) mice. We demonstrate that circulating levels of catecholamines are significantly increased in male as compared with female APP−/− mice. Studies of vasomotor function in isolated aortas revealed that contractions to the α1-receptor agonist phenylephrine were significantly reduced in male APP−/− mice but not in females. In addition, contractions to G protein activation with sodium fluoride were reduced exclusively in male APP−/− mice aortas. The endothelium-dependent relaxations to acetylcholine were not affected by the loss of APP in mice of both sexes. Further analysis of the mechanisms underlying endothelium-dependent relaxations revealed that inhibition of cyclooxygenase by indomethacin significantly impaired relaxations to acetylcholine exclusively in male APP−/− mice. Furthermore, acetylcholine-induced production of cyclic guanosine monophosphate (cGMP) was significantly reduced in male APP−/− mice aortas while acetylcholine-induced production of cyclic adenosine monophosphate (cAMP) was enhanced. We concluded that altered vascular reactivity to phenylephrine appears to be in part the result of chronic exposure of male APP−/− aorta to high circulating levels of catecholamines. The mechanisms responsible for the impairment of endothelium-dependent cGMP signaling and adaptive enhancement of endothelium-dependent production of cAMP remain to be defined. NEW & NOTEWORTHY Male amyloid precursor protein (APP)-deficient mice have higher circulating levels of catecholamines as compared with female APP-deficient mice. As a consequence, endothelium-dependent and endothelium-independent vasomotor functions of male APP-deficient mice are significantly altered. Under physiological conditions, expression of APP appears to play an important role in vascular function.

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Gathercole, Laura L., Nikolaos Nikolaou, Shelley E. Harris, Anastasia Arvaniti, Toryn M. Poolman, Jonathan M. Hazlehurst, Denise V. Kratschmar, et al. "AKR1D1 knockout mice develop a sex-dependent metabolic phenotype." Journal of Endocrinology 253, no. 3 (June 1, 2022): 97–113. http://dx.doi.org/10.1530/joe-21-0280.

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Steroid 5β-reductase (AKR1D1) plays important role in hepatic bile acid synthesis and glucocorticoid clearance. Bile acids and glucocorticoids are potent metabolic regulators, but whether AKR1D1 controls metabolic phenotype in vivo is unknown. Akr1d1–/– mice were generated on a C57BL/6 background. Liquid chromatography/mass spectrometry, metabolomic and transcriptomic approaches were used to determine effects on glucocorticoid and bile acid homeostasis. Metabolic phenotypes including body weight and composition, lipid homeostasis, glucose tolerance and insulin tolerance were evaluated. Molecular changes were assessed by RNA-Seq and Western blotting. Male Akr1d1–/– mice were challenged with a high fat diet (60% kcal from fat) for 20 weeks. Akr1d1–/– mice had a sex-specific metabolic phenotype. At 30 weeks of age, male, but not female, Akr1d1–/– mice were more insulin tolerant and had reduced lipid accumulation in the liver and adipose tissue yet had hypertriglyceridemia and increased intramuscular triacylglycerol. This phenotype was associated with sexually dimorphic changes in bile acid metabolism and composition but without overt effects on circulating glucocorticoid levels or glucocorticoid-regulated gene expression in the liver. Male Akr1d1–/– mice were not protected against diet-induced obesity and insulin resistance. In conclusion, this study shows that AKR1D1 controls bile acid homeostasis in vivo and that altering its activity can affect insulin tolerance and lipid homeostasis in a sex-dependent manner.

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Yasuda, G. K., G. Schubiger, and B. T. Wakimoto. "Genetic characterization of ms (3) K81, a paternal effect gene of Drosophila melanogaster." Genetics 140, no. 1 (May 1, 1995): 219–29. http://dx.doi.org/10.1093/genetics/140.1.219.

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Abstract The vast majority of known male sterile mutants of Drosophila melanogaster fail to produce mature sperm or mate properly. The ms(3) K81(1) mutation is one of a rare class of male sterile mutations in which sterility is caused by developmental arrest after sperm entry into the egg. Previous studies showed that males homozygous for the K81(1) mutation produce progeny that arrest at either of two developmental stages. Most embryos arrest during early nuclear cycles, whereas the remainder are haploid embryos that arrest at a later stage. This description of the mutant phenotype was based on the analysis of a single allele isolated from a natural population. It was therefore unclear whether this unique paternal effect phenotype reflected the normal function of the gene. The genetic analysis and initial molecular characterization of five new K81 mutations are described here. Hemizygous conditions and heteroallelic combinations of the alleles were associated with male sterility caused by defects in embryogenesis. No other mutant phenotypes were observed. Thus, the K81 gene acted as a strict paternal effect gene. Moreover, the biphasic pattern of developmental arrest was common to all the alleles. These findings strongly suggested that the unusual embryonic phenotype caused by all five new alleles was due to loss of function of the K81+ gene. The K81 gene is therefore the first clear example of a strict paternal effect gene in Drosophila. Based on the embryonic lethal phenotypes, we suggest that the K81+ gene encodes a sperm-specific product that is essential for the male pronucleus to participate in the first few embryonic nuclear divisions.

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Cobbs, Gary. "AN INVESTIGATION OF THE GENETICS OF "MALE SEX-RATIO" PHENOTYPE IN DROSOPHILA PSEUDOOBSCURA." Genetics 113, no. 2 (June 1, 1986): 355–65. http://dx.doi.org/10.1093/genetics/113.2.355.

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ABSTRACT A laboratory strain of Drosophila pseudoobscura (L116) is studied that, when crossed to sex-ratio homozygous females, produces sons that exhibit varying levels of the male sex-ratio (msr) phenotype. The msr phenotype occurs only in sex-ratio males and is due to the production of a high frequency of nullo-XY sperm. The level of the msr phenotype is variable, and new variability is generated in one father-son transmission. Pedigree studies indicate the genes for msr reside on the Y chromosome or the autosomes of the L116 stock.

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Duca, M. "Genetic-phytohormonal interactions in male fertility and male sterility phenotype expression in sunflower (Helianthus annuus L.)." Helia 31, no. 48 (2008): 27–38. http://dx.doi.org/10.2298/hel0848027d.

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Duca, M. "Genetic-phytohormonal interactions in male fertility and male sterility phenotype expression in sunflower (Helianthus annuus L.)." Helia 31, no. 48 (2008): 39–46. http://dx.doi.org/10.2298/hel0848039d.

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Martin Gomez, T., B. Torio, I. Ruiz, F. Arranz, and A. Arizcun. "Inmunophenotypic profiles of male breast cancer." Journal of Clinical Oncology 25, no. 18_suppl (June 20, 2007): 21180. http://dx.doi.org/10.1200/jco.2007.25.18_suppl.21180.

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21180 Background: Recently, inmunophenotypic characterization methods have allowed identification of female breast carcinomas into separate groups showing different behaviour and response to therapy: luminal A phenotype (RE +, HER2-neu - ), luminal B (RE +, HER2- neu + ), basal like (RE -, HER2-neu - ). In this study, we used immunohistochemistry to investigate the inmunophenotypic profile distribution of male breast cancer. Methods: all the male breast cancers were obtained from the files of the Departments of Pathology of Hospital Río Carrión in Palencia, Spain, since 1996. A total of 9 cases were reviewed to confirm the diagnosis and to characterize each tumour. The following CK immunohistochemistry was performed: 8/18 and 5 (Dako, Carpinteria, CA, USA) in a Dako autostainer. ER was interpreted as positive if > 10% of the cells were staining. Normal skin and tonsils were used as positive controls for the CK and a known breast cancer for the ER immunohistochemistry. Results: five cases expressed RE and were HER2-neu negative, so they have a luminal-A phenotype. The four cases that expressed the luminal-B pehnotype expressed RE and HER2-neu; we demonstrated gene amplification of the HER-neu gene using fluorescent in situ hybridisation (FISH) in those cases. Respect the CKs profile, all cases were positive for CK 8/18 and negative with CK 5, vimentin and p63, characteristic of luminal-like CK expression profile, according wiht the literature. Conclusions: this is the first case series of male breast cancer patients that provides inmunophenotypic profile data on this rare disease in only one center in Spain. We comunicate that the vast majority of these tumours express the phenotype of luminal-like CKs. None of our patients were basal-like tumours. The percentage expression of Her-2 parallels the finding in female breast cancers and this should be analysed for its predictive significance, according to new specific biological treatments. No significant financial relationships to disclose.

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Marshall, Jeremy L., and Nicholas DiRienzo. "Noncompetitive Gametic Isolation between Sibling Species of Cricket: A Hypothesized Link between Within-Population Incompatibility and Reproductive Isolation between Species." International Journal of Evolutionary Biology 2012 (November 29, 2012): 1–7. http://dx.doi.org/10.1155/2012/593438.

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Postmating, prezygotic phenotypes are a common mechanism of reproductive isolation. Here, we describe the dynamics of a noncompetitive gametic isolation phenotype (namely, the ability of a male to induce a female to lay eggs) in a group of recently diverged crickets that are primarily isolated from each other by this phenotype. We not only show that heterospecific males are less able to induce females to lay eggs but that there are male by female incompatibilities in this phenotype that occur within populations. We also identify a protein in the female reproductive tract that correlates with the number of eggs that she was induced to lay. Functional genetic tests using RNAi confirm that the function of this protein is linked to egg-laying induction. Moreover, the dysfunction of this protein appears to underlie both within-population incompatibilities and between-species divergence—thus suggesting a common genetic pathway underlies both. However, this is only correlative evidence and further research is needed to assess whether or not the same mutations in the same genes underlie variation at both levels.

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Guarnieri, Serena, Steffen Loft, Patrizia Riso, Marisa Porrini, Lotte Risom, Henrik E. Poulsen, Lars O. Dragsted, and Peter Møller. "DNA repair phenotype and dietary antioxidant supplementation." British Journal of Nutrition 99, no. 5 (May 2008): 1018–24. http://dx.doi.org/10.1017/s0007114507842796.

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Phytochemicals may protect cellular DNA by direct antioxidant effect or modulation of the DNA repair activity. We investigated the repair activity towards oxidised DNA in human mononuclear blood cells (MNBC) in two placebo-controlled antioxidant intervention studies as follows: (1) well-nourished subjects who ingested 600 g fruits and vegetables, or tablets containing the equivalent amount of vitamins and minerals, for 24 d; (2) poorly nourished male smokers who ingested 500 mg vitamin C/d as slow- or plain-release formulations together with 182 mg vitamin E/d for 4 weeks. The mean baseline levels of DNA repair incisions were 65·2 (95 % CI 60·4, 70·0) and 86·1 (95 % CI 76·2, 99·9) among the male smokers and well-nourished subjects, respectively. The male smokers also had high baseline levels of oxidised guanines in MNBC. After supplementation, only the male smokers supplemented with slow-release vitamin C tablets had increased DNA repair activity (27 (95 % CI 12, 41) % higher incision activity). These subjects also benefited from the supplementation by reduced levels of oxidised guanines in MNBC. In conclusion, nutritional status, DNA repair activity and DNA damage are linked, and beneficial effects of antioxidants might only be observed among poorly nourished subjects with high levels of oxidised DNA damage and low repair activity.

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Hoysak, Drew J., N. Robin Liley, and Eric B. Taylor. "Raffles, roles, and the outcome of sperm competition in sockeye salmon." Canadian Journal of Zoology 82, no. 7 (July 1, 2004): 1017–26. http://dx.doi.org/10.1139/z04-073.

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In species with male alternative reproductive phenotypes, one phenotype is usually disadvantaged in mating competition. In salmonid fishes, large late-maturing males pair with nesting females and maintain close contact before and during spawning. Small early-maturing males have little contact with nesting females and, during spawning, begin to release sperm after the paired male. The effects of male phenotype and timing of ejaculation on success in sperm competition are not known. In this study, we determined paternity of offspring resulting from in vitro competitive fertilizations to examine these two aspects of sperm competition in sockeye salmon, Oncorhynchus nerka (Walbaum, 1792). When we fertilized eggs with mixtures of equal numbers of sperm from each of two male age classes, we found that success in sperm competition did not depend on male age. However, success in these competitive fertilizations did not conform to the fair raffle model of sperm competition, since paternity in most of the clutches was biased in favour of one male. When we added milt from two males sequentially to a batch of eggs, we found that sperm from the second male fertilized fewer eggs than sperm from the first male, but the difference was less than expected. In addition, a male's success when his milt was added first was not correlated with his success when his milt was added second.

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Ohno, Hiroshi, Takashi Matsuzaka, Nie Tang, Rahul Sharma, Kaori Motomura, Takuya Shimura, Aoi Satoh, et al. "Transgenic Mice Overexpressing SREBP-1a in Male ob/ob Mice Exhibit Lipodystrophy and Exacerbate Insulin Resistance." Endocrinology 159, no. 6 (April 12, 2018): 2308–23. http://dx.doi.org/10.1210/en.2017-03179.

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Abstract Sterol regulatory element–binding protein (SREBP)-1a is a key transcription factor that activates the expression of genes involved in the synthesis of fatty acids, triglycerides (TGs), and cholesterol. Transgenic mice that overexpress the nuclear form of SREBP-1a under the control of the phosphoenolpyruvate carboxykinase promoter (Tg-1a) were previously shown to display a lipodystrophic phenotype characterized by enlarged and fatty livers, diminished peripheral white adipose tissue (WAT), and insulin resistance. In the current study, we crossed these Tg-1a mice with genetically obese (ob/ob) mice (Tg-1a;ob/ob) and examined change in fat distribution between liver and adipose tissues in severe obesity and mechanism underlying the lipodystrophic phenotype in mice with Tg-1a. Tg-1a;ob/ob mice developed more severe steatohepatitis but had reduced WAT mass and body weight compared with ob/ob mice. The reduction of WAT mass in Tg-1a and Tg-1a;ob/ob mice was accompanied by enhanced lipogenesis and lipid uptake in the liver, reduced plasma lipid levels, impaired adipocyte differentiation, reduced food intake, enhanced energy expenditure, and extended macrophage infiltration and fibrosis in WAT. Despite the improved glucose tolerance, Tg-1a;ob/ob mice showed severe peripheral insulin resistance. Adenoviral hepatic expression of SREBP-1a mimicked these phenotypes. The “fat steal”-like lipodystrophy phenotype of the Tg-1a;ob/ob model demonstrates that hepatic SREBP-1a activation has a strong impact on the partition of TG accumulation, resulting in adipose-tissue remodeling by inflammation and fibrosis and insulin resistance.

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