Artículos de revistas: "Regione AZFc"

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S. Ambulkar, Prafulla y Sunil S. Pande. "Study of Y-Chromosome Microdeletions in Azoospermic Infertile Males using Multiplex PCR Analysis". Biosciences, Biotechnology Research Asia 15, n.º 2 (27 de junio de 2018): 351–57. http://dx.doi.org/10.13005/bbra/2639.

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The infertility affects about 15% of couples and male factors being responsible about 40-50%. In male infertility, genetic abnormalities of Y chromosome play crucial role in spermatogenesis defect. Y chromosome q arm having Azoospermia factor region (AZFa, AZFb, and AZFc) are most important for spermatogenesis. Here, we investigated the frequencies of Y-chromosome microdeletions using three sets of multiplex PCR in idiopathic cases of azoospermia. We studied a total of 110 infertile male with non-obstructive azoospermia subjects & 50 fertile control subjects. All DNA samples were used for Y chromosome microdeletions analysis by using 11 STS markers in three different multiplex PCR of AZF regions. Out of 110 infertile azoospermic males, 14 (12.72%) infertile males showed partial deletion of AZF regions using three sets of multiplex PCR group. In the AZF microdeletions of infertile males, individually AZFc region was the most deletions sites (10%) followed by AZFb (6.36%) and AZFa (1.81%). The sites and sizes of microdeletions differ in all infertile azoospermic males who showed at least two or more STS markers microdeletions. The frequency of Y chromosome microdeletions in our azoospermic infertile males is 12.72%. We conclude that Y chromosome microdeletions frequency in azoospermic infertile males is higher than other infertile group due to severe impairment in spermatogenesis. Multiplex PCR screening of microdeletions is very useful and time saving technique when used more number of STS markers. It will be great help to infertility clinics for genetic counseling and assisted reproduction.

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Kim, Shin Y., Bom Y. Lee, Ah R. Oh, So Y. Park, Hyo S. Lee y Ju T. Seo. "Clinical, Hormonal, and Genetic Evaluation of Idiopathic Nonobstructive Azoospermia and Klinefelter Syndrome Patients". Cytogenetic and Genome Research 153, n.º 4 (2017): 190–97. http://dx.doi.org/10.1159/000487039.

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To investigate the clinical, hormonal, and genetic factors in infertile men with idiopathic nonobstructive azoospermia (NOA) or azoospermic Klinefelter syndrome (KFS), a total of 556 and 96 patients, respectively, were included in this study. All patient samples were analyzed cytogenetically. Serum reproductive hormone levels were measured. Microdeletions in the azoospermia factor (AZF) region of the Y chromosome were detected by multiplex PCR using 16 specific sequence-tagged sites. FSH and LH levels in both NOA and KFS patients were significantly higher than the normal range, and the testosterone level in KFS patients was significantly lower. Ninety-two (95.8%) of the KFS patients showed non-mosaic 47,XXY karyotypes and 47,XXY,inv(9)(p11.1q13); the other KFS patients had mosaic karyotypes of 47,XXY/46,XY, 47,XXY/46,XX, and 47,XXY/48,XXXY/46,XX. Among the 556 idiopathic NOA patients with normal karyotypes, 67 (12.05%) had microdeletions in the AZF region of the Y chromosome. Microdeletions were most frequently detected in the AZFc region, followed by AZFa, AZFb, AZFbc, and partial AZFc deletions. However, Y chromosome microdeletions were not found in any of the azoospermic KFS patients. In view of the hormonal and genetic abnormalities in infertile men with idiopathic NOA and with azoospermic KFS, genetic testing for karyotype, Y chromosome microdeletions, and hormonal parameters is advocated.

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Pan, Yuan, Hong-guo Zhang, QI Xi, Han Zhang, Rui-xue Wang, Lei-lei Li y Rui-zhi Liu. "Molecular microdeletion analysis of infertile men with karyotypic Y chromosome abnormalities". Journal of International Medical Research 46, n.º 1 (23 de agosto de 2017): 307–15. http://dx.doi.org/10.1177/0300060517719394.

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Objectives To investigate azoospermic factor (AZF) microdeletions in infertile men from northeastern China with karyotypic Y chromosome abnormalities. Methods G-banding of metaphase chromosomes and karyotype analysis were performed in all infertile male patients. Genomic DNA was isolated and used to analyze classical AZF microdeletions by PCR. The regions and sequence-tagged sites of AZFa (SY86, SY84), AZFb (SY127, SY134, SY143), and AZFc (SY152, SY254, SY255, SY157) were sequenced by multiplex PCR. Results A total of 190 Y chromosome abnormality carriers were found, of whom 35 had AZF microdeletions. These were most common in 46,X,Yqh− patients, followed by 45,X/46,XY patients. Most microdeletions were detected in the AZFb + c region, including 48.57% of all AZF microdeletion cases. AZF partial deletions were also seen in these patients. Overall, AZF microdeletions were detected in 38.5% Y chromosome abnormality carriers, and most were observed in 46,X,Yqh− individuals. Loss of SY152 was seen in all 35 patients, with SY254/SY255 detected in 34 of 35 patients. Conclusions AZF microdeletions were detected in 38.5% of Y chromosome abnormality carriers. This indicates that AZF microdeletion screening is advisable for individuals with karyotypic Y chromosome abnormalities.

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Navarro-Costa, Paulo, Carlos E. Plancha y João Gonçalves. "Genetic Dissection of the AZF Regions of the Human Y Chromosome: Thriller or Filler for Male (In)fertility?" Journal of Biomedicine and Biotechnology 2010 (2010): 1–18. http://dx.doi.org/10.1155/2010/936569.

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The azoospermia factor (AZF) regions consist of three genetic domains in the long arm of the human Y chromosome referred to as AZFa, AZFb and AZFc. These are of importance for male fertility since they are home to genes required for spermatogenesis. In this paper a comprehensive analysis of AZF structure and gene content will be undertaken. Particular care will be given to the molecular mechanisms underlying the spermatogenic impairment phenotypes associated to AZF deletions. Analysis of the 14 different AZF genes or gene families argues for the existence of functional asymmetries between the determinants; while some are prominent players in spermatogenesis, others seem to modulate more subtly the program. In this regard, evidence supporting the notion thatDDX3Y,KDM5D,RBMY1A1,DAZ, andCDYrepresent key AZF spermatogenic determinants will be discussed.

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Gao, Zhixiang, Feng Yuan, Qiaoqiao Li, Renlan Xia, Kai Fu, Boxin Xue y Xiaolong Liu. "Whole-genome sequencing analysis of Y chromosome microdeletion: a case report". Journal of International Medical Research 48, n.º 12 (diciembre de 2020): 030006052097649. http://dx.doi.org/10.1177/0300060520976494.

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The mechanisms by which Y chromosome microdeletions cause infertility have been well described; however, the therapeutic targets remain a challenge. Here, we used whole-genome sequencing to explore the mechanism of Y chromosome deletion and potential therapeutic targets in a patient with infertility. There were no abnormalities in the patient’s medical history. Routine semen analysis showed immotile sperm and only two motile spermatozoa were occasionally see after centrifugation, indicating that the direct cause of infertility was an abnormal sperm count and motility. A Y chromosome microdeletion test revealed partial deletion of the AZFc region, including AZFc1, AZFc2, AZFc3, and AZFc4. Whole-genome sequencing showed that the patient had seven harmful mutations, with only one significant epigenetic mutation, SH3KBP1. Gene Ontology analysis of these meaningful mutations indicated involvement of cAMP signaling pathways. The patient’s wife became pregnant following in vitro fertilization, and no significant abnormalities were found during prenatal examination. This case suggests that Y chromosome microdeletion and gene mutation may affect the cAMP signaling pathway, leading to reduced sperm quality and male infertility.

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Hanoon, Rana Adel, Alaa Hani Raziq y Farida Fariq Nerwey. "AZF micro-deletion in azoospermia and severe oligospermia: Molecular & histopathological study in Duhok Province". Science Journal of University of Zakho 5, n.º 3 (24 de agosto de 2017): 239. http://dx.doi.org/10.25271/2017.5.3.354.

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Y chromosome micro-deletion (YCM) is a group of genetic diseases caused by missing gene (s) in specific regions of the Y chromosome. Many individuals with YCM show no manifestations and lead normal life. On the other hand, YCM is known to exist in a significant number of infertile males. Forty adult patients suffering from severe oligospermia and azoospermia were enrolled in the present study. Seminal fluid analyses were performed, and a blood sample was obtained for hormonal analysis and DNA extraction. Follicle stimulating hormone (FSH) and luteinizing hormone (LH) profiles were measured and those who are azoospermic with normal FSH levels were subjected to testicular biopsy. The results revealed that 23 patients were azoospermic while 17 patients were severe oligospermic. It is also shown that ten azoospermic patients had normal serum gonadotrophin levels thus they were directed for testicular biopsy. Histopathological examination of testicular biopsy showed that four patients had obstructive azoospermia while the remaining six suffered maturation arrest. DNA was extracted according to the standard proteinase K/phenol-chloroform method in the medical biotechnology laboratory/Scientific Research Center/University of Duhok. Multiplex PCR was performed for genes located in the azoospermia factor (AZF) regions (AZFa, AZFb, and AZFc) to detect any possible micro-deletions. Y chromosome micro-deletions were determined in 26 patients out of a total of 40 patients. Micro-deletions in the AZFc sub-region appeared in 16 out of 26 patients (61.5 %), and 10 (38.5 %) sample showed AZFb, however, AZFa micro-deletion was not detected in any of the patients. In conclusion, it has been found that Y chromosome micro-deletions in the AZF region can be a determining factor for male infertility and the resultant manifestations.

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Luong, Thi Lan Anh, Thu Lan Hoang, Minh Ngoc Nguyen y Ngoc Dung Nguyen. "A procedure to detect 6 basic STSs and 11 extended STSs in the AZF region using multiplex PCR". Ministry of Science and Technology, Vietnam 63, n.º 3 (21 de septiembre de 2021): 48–55. http://dx.doi.org/10.31276/vjste.63(3).48-55.

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Microdeletions of Y chromosomes frequently occur in 3 subregions of the AZF, namely, AZFa, AZFb, and AZFc, with 6 basic STS marker sequences, which are sY84, sY86 (AZFa), sY127, sY134 (AZFb), and sY254, sY255 (AZFc). According to EAA/EMNQ guidelines, 11 additional AZFabc marker sequences should be used to determine the extent of the microdeletion in the AZF region of infertile men, which is known as 11 extended STSs. By applying mPCR, the authors develop an optimal detection procedure for the 6 basic STS and 11 extended STS using 3 multiplex PCR reactions. The first multiplex PCR reaction includes 6 basic STS plus the 2 control sequences sex-determining region Y (SRY) and zinc finger protein X/Y-linked (ZFX/Y). The second multiplex PCR reaction includes the 6 extended STS sY88, sY1182, sY105, sY121, sY1191, and sY1291 and the 2 control sequences SRY and ZFX/Y. The third multiplex PCR reaction includes the 5 extended STS sY153, sY160, sY82, sY143, and sY83 and the 2 control sequences SRY and ZFX/Y. Six basic primer sequences and eleven extended primer sequences are redesigned to simultaneously pair and amplify STS in the same multiplex reaction: set of 8 primers for 6 basic STS: 6 basic STS + 2 (SRY, ZFX/Y), 8 extension primers set E1: 6 extended STS + 2 (SRY, ZFX/Y), and 7 extension primers set E2: 5 extended STS + 2 (SRY, ZFX/Y). We successfully designed primer pairs with high specificity and stability and successfully amplified 6 basic STS and 11 extended STS, which ensures that the STSs have the correct sequence as recommended by EAA/EMQN and are consistent with the NCBI gene bank. This study has successfully developed a procedure to simultaneously detect 17 STSs, including 6 basic STSs and 11 extended STSs in the AZF region using 3 multiplex PCR reactions.

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Sha, Jing, Guiping Huang, Bei Zhang, Xia Wang, Zaochun Xu y Jingfang Zhai. "Chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia in Eastern China". Journal of International Medical Research 48, n.º 4 (29 de diciembre de 2019): 030006051989671. http://dx.doi.org/10.1177/0300060519896712.

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Objective The objective was to investigate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in infertile men with azoospermia and oligozoospermia to ensure appropriate genetic counseling before assisted reproduction in Eastern China. Methods A total of 201 infertile men (148 with azoospermia and 53 with oligozoospermia) were enrolled. Real-time PCR using six Y-specific sequence-tagged sites of the azoospermia factor (AZF) region was performed to screen for microdeletions. Karyotype analyses were performed on peripheral blood lymphocytes with standard G-banding. Results Out of 201 infertile patients, 22 (10.95%) had Y microdeletions [17/148 (11.49%) men with azoospermia and 5/53 (9.43%) men with oligozoospermia]. The most frequent microdeletions were in the AZFc region, followed by the AZFa+b + c, AZFb+c, AZFa, and AZFb regions. Chromosomal abnormalities were detected in 18.91% (38/201) of patients, 34 of which were sex chromosome abnormalities (16.92%) and 4 of which were autosomal abnormalities (1.99%). Chromosomal abnormalities were more prevalent in men with azoospermia (22.97%) than in those with oligozoospermia (7.55%). Conclusions We detected a high incidence of chromosomal abnormalities and Y chromosomal microdeletions in infertile Chinese men with azoospermia and oligozoospermia. These findings suggest the need for genetic testing before the use of assisted reproduction techniques.

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Fayez, Alaaeldin Gamal, Amr Saad El-Sayed, Mohamed Ali El-Desouky, Waheba Ahmed Zarouk, Alaa Khalil Kamel, Ibrahim Mohamed Fahmi y Mona Omar El-Ruby. "Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility". International Journal of Infertility & Fetal Medicine 3, n.º 3 (2012): 69–77. http://dx.doi.org/10.5005/jp-journals-10016-1045.

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ABSTRACT Men with severe infertility suffer a high risk of Y chromosome deletion, hence screening for these cases is recommended prior to treatment with assisted reproduction. Our study aimed to investigate and detect the azoospermia factor (AZF) region deletion, rearrangement and deleted azoospermia (DAZ) gene copy number variations in Egyptian azoospermic infertile men. This was tested on 54 Egyptian nonobstructive azoospermic (NOA) infertile men, with age ranged from 21 to 45 years (mean: 31.4 ± 6.1 years), by STS ± multiplex PCR using a set of 14 sequence tagged sites (STSs) from three different regions of the Y chromosome: AZFa, AZFb, AZFc and sY587/DraI PCRRFLP assay to determine DAZ copy number variations. The results revealed a significant prevalence of AZFc subtypes deletion and reduced DAZ gene dosage in Egyptian azoospermic cases affecting Y chromosome deletions. To our knowledge, this study is the first one to investigate AZFc subtypes deletion and DAZ gene dosage in Egyptian infertile men. We concluded that DAZ genes deletion is a risk factor for spermatogenic damage. How to cite this article Fayez AG, El-Sayed AS, El-Desouky MA, Zarouk WA, Kamel AK, Fahmi IM, El-Ruby MO. Molecular Characterization of Some Genetic Factors Controlling Spermatogenesis in Egyptian Patients with Male Infertility. Int J Infertility Fetal Med 2012;3(3):69-77.

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Laverde-Angarita, Lilia Judith, Natalia Agudelo-Hincapie y Ana Lucia Páez-Vila. "Efecto de la microdeleción en la región AZF sobre marcadores forenses del cromosoma Y". Colombia Forense 2, n.º 1 (15 de diciembre de 2015): 73. http://dx.doi.org/10.16925/cf.v3i1.1173.

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Tema y alcance: el objetivo de esta revisión es conocer los estudios que se han hecho a nivel mundial sobre las microdeleciones del cromosoma Y y sus posibles efectos en los resultados genético forenses observados. Características: la infertilidad originada en el cromosoma Y es generalmente causada por deleciones del material genético en las zonas relacionadas con el Factor de Azoospermia (AZF), localizadas en tres regiones del Yq contiguas: AZFa, AZFb y AZFc. Hallazgos: se ha comprobado que algunos de los STRs utilizados rutinariamente en el laboratorio de genética forense con kits multiplex están localizados en estas regiones permitiendo evidenciar la existencia de microdeleciones en algunos loci. Aumentar el conocimiento de los eventos microestructurales dentro del cromosoma Y puede ser de utilidad para una mejor caracterización de los patrones anormales repetitivos que complican la interpretación del perfil de ADN. Conclusiones: la variación en estudios poblacionales de prevalencia de microdeleciones, puede deberse a diferencias en la selección de los pacientes, tamaño muestral, la técnica usada. Los casos reportados concluyen que los loci afectados generalmente son DYS385, DYS392 indican microdeleciones en la región AZFb y DYS448 está relacionado con microdeleciones en la región AZFc.

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Huynh, Phuong Thi Kim, Thanh Kieu Huynh, Nam Tri Vo, Anh Le Tuan Nguyen, Hoang Duc Nguyen, Trang Thi Phuong Phan, Thong Van Nguyen y Giang Ha Pham. "Establishment of a Multiplex – PCR protocol for detection of Y chromosome microdeletion in Azoospermia male patients". Science and Technology Development Journal 18, n.º 4 (30 de diciembre de 2015): 5–15. http://dx.doi.org/10.32508/stdj.v18i4.904.

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Microdeletion on the Y chromosome is one of the causes that makes men infertile, accounting for 2-10 % of all infertility cases, and occurs frequently at 3 regions of the Ychromosome long arm namely AZFa, AZFb and AZFc (azoospermia factor). Currently, the diagnosis of microdeletion on the Y chromosome is almost mandatory in institutes and centers for infertility diseases before selecting treatment or assisting methods. To detect microdeletion in AZF, SRY and ZFY regions, the current approach is a Multiplex – PCR assay offering by European Academy of Andrology/European Molecular Genetics Quality Network (EAA/ EMQN). However, the drawback of this method is the PCR products posess similar size and then the DNA electrophoresis bands were very close on gels causing the difficult in diagnosis. Therefore, in this study, we have redesigned primer pairs matching with genes that were recommended by EAA/EMQN but the PCR products are clearly different in sizes, making the DNA electrophoresis bands take apart further to facilitate the diagnosis. Besides, we have also created recombinant plasmids carrying the marker genes for the control sample in kits.

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Hopps, C. V. "Detection of sperm in men with Y chromosome microdeletions of the AZFa, AZFb and AZFc regions". Human Reproduction 18, n.º 8 (1 de agosto de 2003): 1660–65. http://dx.doi.org/10.1093/humrep/deg348.

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Zhao, Pingsen, Xiaodong Gu, Heming Wu y Xunwei Deng. "Molecular and cytogenetic analysis of infertile Hakka men with azoospermia and severe oligozoospermia in southern China". Journal of International Medical Research 47, n.º 3 (7 de enero de 2019): 1114–23. http://dx.doi.org/10.1177/0300060518816253.

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Objective To determine the prevalence of chromosome abnormalities and azoospermia factor (AZF) microdeletions in Hakka men with infertility in southern China. Methods Hakka male patients, who received clinical counselling for infertility between August 2016 and October 2017, and fertile male controls, were enrolled into this retrospective study. Patients diagnosed with infertility and controls underwent cytogenetic analysis by standard G-banding; AZF microdeletions were examined by multiplex polymerase chain reaction and capillary electrophoresis. Results Out of 918 male patients who received fertility counselling, 57 were diagnosed with infertility due to azoospermia or severe oligozoospermia. Of these infertile patients, 22.81% (13/57) carried chromosome abnormalities, with 47, XXY being the most common abnormal karyotype. In addition, 36.84% (21/57) presented with Y chromosome microdeletions, most frequently in the complete AZFc and partial AZFc region. Duplication of the AZFc region was found in three patients. No AZF microdeletions were found in 60 fertile male controls. Conclusion The high AZF microdeletion frequency in the current Hakka population suggests that AZF microdeletion analysis is essential in fertility screening, and combined with cytogenetic analysis, may influence the choice of assisted reproductive techniques and reduce the risk of inherited genetic disease.

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Barnabas, Linda C., Anbu Sumathy, Muthuswamy A. Indumathi, Thankam R. Varma, Swathi Shetty, Jayarama S. Kadandale y Bibhas Kar. "Localization of the SRY Gene on Chromosome 3 in a Patient with Azoospermia and a Complex Karyotype 45,X/46,X,i(Y)(q10)/46,XX/ 47,XX,i(Y)(q10)". Cytogenetic and Genome Research 156, n.º 3 (2018): 134–39. http://dx.doi.org/10.1159/000494464.

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This study aimed to identify the cause of azoospermia in a 38-year-old infertile man who was referred for genetic testing. Cytogenetic evaluation was performed by G-banding, C-banding, and FISH using centromeric probes for chromosomes X and Y and showed the presence of a monocentric isochromosome Y with a complex, mosaic karyotype 45,X/46,X,i(Y)(q10)/46,XX/47,XX,i(Y)(q10). Multiplex PCR for the commonly deleted genes in the AZFa, AZFb, and AZFc regions of the Y chromosome was performed and indicated the presence of all 3 regions. Further, PCR amplification followed by DNA sequencing of the SRY gene was done, which ruled out mutations in that gene. To identify the position of the SRY gene, FISH using a locus-specific probe was used and showed that the gene had been translocated to chromosome 3. Subtelomere FISH for 3q and Yp evidenced that the subtelomeric region of the Y chromosome was found on the terminal region of 3q. The clinical symptoms of the patient can be attributed to this abnormal genotype. The importance of genetic testing in infertile patients and the need for genetic counselling to prevent the transmission of the defect are emphasized.

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Ristanovic, Momcilo, Vera Bunjevacki, Cane Tulic, Ivana Novakovic, Tatjana Ille, Dragica Radojkovic y Aleksandra Nikolic. "Y chromosome microdeletions in infertile male candidates for microfertilization". Srpski arhiv za celokupno lekarstvo 136, n.º 3-4 (2008): 126–30. http://dx.doi.org/10.2298/sarh0804126r.

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Introduction Y chromosome microdeletions are the second most frequent genetic cause of male infertility after Klinefelter's syndrome. Objective The aim of the study was to determine the frequency of Y chromosome microdeletions in a group of infertile men with an idiophatic cause of infertility, candidates for microfertilization (Intra-cytoplasmic Sperm Injection - ICSI) in Serbia and to correlate genotype-phenotype in patients with Y chromosome microdeletions. METHOD One hundred and sixty patients with low sperm count (less than 5x106 spermatozoa/ml) were enrolled in the study. Forty patients were excluded from the study: ten because they were diagnosed with cytogenetic abnormality and thirty patients were diagnosed with other known causes of infertility. The control group consisted of 150 men who fathered at least one child in the last two years. Genomic DNA was extracted from peripheral blood samples and two multiplex polymerase chain reactions (PCR) analyses were performed using specific primers to confirm the presence or absence of Y chromosome microdeletions. Results Microdeletions were detected in 12 of 120 (10%) cases, while no deletions were detected in the control group. Of total number of 12 deletions, nine were detected in AZFc region (75%), one in AZFa (8%), and two in AZFbc (17%). Conclusion Testing for Y chromosome microdeletions should be considered as an important element in diagnosis and genetic counselling of infertile couples in Serbia. Decisions regarding the assisted reproduction should be made based on the detailed clinical, endocrinological and cytogenetic examinations, spermogram, presence or absence and type of AZF microdeletions and CFTR gene mutations. .

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А.И., Рыжков,, Шорманов, И.С., Ворчалов, М.М., Соколова, С.Ю., Дыбин, А.В. y Черных, В.Б. "AZFb region deletions of Y chromosome in oligozoospermic patient: clinical case and review". Nauchno-prakticheskii zhurnal «Medicinskaia genetika, n.º 12 (27 de diciembre de 2021): 40–52. http://dx.doi.org/10.25557/2073-7998.2021.12.40-52.

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Микроделеции хромосомы Y в локусе Yq11.2/AZF («фактор азооспермии») являются частой генетической причиной мужского бесплодия, связанного с азооспермией и олигозооспермией. Для делеций, целиком захватывающих регион AZFb, характерна азооспермия вследствие тяжелых нарушений сперматогенеза (блок профазы I мейоза, синдром «только клетки Сертоли»). При этом невозможно получить сперматозоиды, пригодные для искусственного оплодотворения ни из эякулята, ни из биоптата яичка. В статье представлены результаты обследования мужчины с первичным бесплодием и олигоастенотератозооспермией тяжелой степени, имеющего микроделецию Y-хромосомы в регионе AZFb. При стандартном цитогенетическом исследовании выявлен нормальный мужской кариотип (46,XY). Мультиплексная ПЦР выявила отсутствие локусов sY127, sY134 и sY142, что характерно для полных делеций AZFb. Хромосомный микроматричный анализ позволил установить, что делеция имела размер 3,5 млн п.н. и располагалась в локусах Yq11.222-q11.223 (20.583.738-24.094.882), частично захватывая регион AZFb. По-видимому, делеция возникла в результате несбалансированной рекомбинации ампликонов b1 и b5. В литературе описаны единичные случаи частичного сохранения сперматогенеза и олигозооспермии у мужчин с разными типами делеций AZFb. Представленное клиническое наблюдение и ранее описанные случаи частичного сохранения сперматогенеза у некоторых пациентов с микроделециями хромосомы Y свидетельствуют о возможности получения сперматозоидов, пригодных для ЭКО/ИКСИ, у некоторых пациентов с частичными и полными делециями AZFb и AZFb+c. В связи с этим, а также возможностью ложноположительных и/или неправильно определенных типов микроделеций хромосомы Y необходимо выполнять верификацию делеций AZF с определением их типа/подтипа. Y chromosome microdeletions in the AZF/Yq11.2 locus («azoospermia factor») are a common genetic cause of male infertility associated azoospermia and severe oligozoospermia. Complete AZFb region deletions are characterized by azoospermia due to severe spermatogenesis defects (meiotic arrest at prophase I and Sertoli cell-only syndrome), while it is impossible to obtain sperm suitable for in vitro fertilization, neither from the ejaculate, no from testicular biopsy. This article describes severe oligoastenoteratozoospermic patient with distal AZFb region deletion. According to the results of chromosome analysis, the patient had a normal male karyotype (46,XY). Multiplex PCR revealed an absence of sY127, sY134 и sY142 loci, that is characteristic for complete AZFb deletion. High-resolution array comparative genomic hybridization (arrayCGH) allowed to detect CNV (copy number variant) in Yq11.222-q11.223 loci, which is 3.5 Mb deletion (20.583.738-24.094.882), partially deleting the AZFb region. Apparently, the deletion occurred as a result of unbalanced recombination of amplicons b1 and b5. Few oligozoospermic men with various types of AZFb deletions have been reported in the literature. The presented case and previously reported patients with Y-chromosome microdeletions indicate the possibility of sperm retrieval of spermatozoa suitable for IVF/ICSI in some patients with complete and partial AZFb and AZFb+c deletions in partial preservation of spermatogenesis. In this regard, as well as the possibility of falsely positive and or incorrectly defined AZF deletions, it is need to highly recommend to verify various deletions with the (sub)typing when Y chromosome microdeletions were detected.

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Alksere, Baiba, Dace Berzina, Alesja Dudorova, Una Conka, Santa Andersone, Evija Pimane, Sandra Krasucka et al. "Case of Inherited Partial AZFa Deletion without Impact on Male Fertility". Case Reports in Genetics 2019 (31 de octubre de 2019): 1–5. http://dx.doi.org/10.1155/2019/3802613.

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Male factor infertility accounts for 40–50% of all infertility cases. Deletions of one or more AZF region parts in chromosome Y are one of the most common genetic causes of male infertility. Usually full or partial AZF deletions, including genes involved in spermatogenesis, are associated with spermatogenic failure. Here we report a case of a Caucasian man with partial AZFa region deletion from a couple with secondary infertility. Partial AZFa deletion, involving part of USP9Y gene appears to be benign, as we proved transmission from father to son. According to our results, it is recommended to revise guidelines on markers selected for testing of AZFa region deletion, to be more selective against DDX3Y gene and exclude probably benign microdeletions involving only USP9Y gene.

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18

Imken, Laila, Brahim El Houate, Abdelaziz Chafik, Halima Nahili, Redouane Boulouiz, Omar Abidi, Elbakkay Chadli et al. "AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men". Asian Journal of Andrology 9, n.º 5 (septiembre de 2007): 674–78. http://dx.doi.org/10.1111/j.1745-7262.2007.00290.x.

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19

V.A. Ferandra, V. A. Ferandra y Sukarjati Sukarjati. "DETEKSI DELESI GEN DAZ (Deleted in AZoospermia) PADA PRIA AZOOSPERMIA DENGAN METODE PCR (Polymerase Chain Reaction)". Medical Technology and Public Health Journal 1, n.º 1 (24 de agosto de 2018): 52–62. http://dx.doi.org/10.33086/mtphj.v1i1.298.

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At this time the case of azoospermia is quite common in infertile men. Azoospermia is a condition where the semen does not contain sperm. Many causes azoospermia, including the deletion of a gene at the locus that is located on the Y chromosome long arm (YQ) known as AZF gene (Azoospermia Factor). One of the genes in the AZF region are genes that AZFc DAZ (Deleted in Azoospermia). The purpose of this study was to detect the presence of the DAZ gene deletions in men with azoospermia cases using PCR (Polymerase Chain Reaction). The study design was descriptive. Venous blood samples with EDTA anticoagulant taken from 10 men azoospeermia then extracted to obtain DNA. DNA samples were then carried out PCR with primers DAZ. The PCR products were separated by electrophoresis in 2% agarose gel and visualized using UV translluminator. Of the 10 samples, four patients including DAZ gene deletion was detected experience while the other six do not experience DAZ gene deletions. It concluded that found their DAZ gene deletions in men with azoospermia using the PCR method.

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20

Ferandra, V. A. y Sukarjati Sukarjati. "DETEKSI DELESI GEN DAZ (Deleted in AZoospermia) PADA PRIA AZOOSPERMIA DENGAN METODE PCR (Polymerase Chain Reaction)". Medical Technology and Public Health Journal 1, n.º 1 (24 de agosto de 2018): 52–58. http://dx.doi.org/10.33086/mtphj.v1i1.759.

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At this time the case of azoospermia is quite common in infertile men. Azoospermia is a condition where the semen does not contain sperm. Many causes azoospermia, including the deletion of a gene at the locus that is located on the Y chromosome long arm (YQ) known as AZF gene (Azoospermia Factor). One of the genes in the AZF region are genes that AZFc DAZ (Deleted in Azoospermia). The purpose of this study was to detect the presence of the DAZ gene deletions in men with azoospermia cases using PCR (Polymerase Chain Reaction). The study design was descriptive. Venous blood samples with EDTA anticoagulant taken from 10 men azoospeermia then extracted to obtain DNA. DNA samples were then carried out PCR with primers DAZ. The PCR products were separated by electrophoresis in 2% agarose gel and visualized using UVtranslluminator. Of the 10 samples, four patients including DAZ gene deletion was detected experience while the other six do not experience DAZ gene deletions. It concluded that found their DAZ gene deletions in men with azoospermia using the PCR method

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21

Zhang, J., P. q. Li, Q. h. Yu, H. y. Chen, J. Li y Y. s. He. "Development of a multiplex quantitative fluorescent PCR assay for identification of rearrangements in the AZFb and AZFc regions". Molecular Human Reproduction 14, n.º 6 (29 de abril de 2008): 371–76. http://dx.doi.org/10.1093/molehr/gan022.

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22

Kim, Byunghyuk, Wonkyung Lee, Kunsoo Rhee, Soo Woong Kim y Jae-Seung Paick. "Analysis of DAZ gene expression in a partial AZFc deletion of the human Y chromosome". Reproduction, Fertility and Development 26, n.º 2 (2014): 307. http://dx.doi.org/10.1071/rd12290.

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The azoospermia factor c (AZFc) region of the Y chromosome consists of repetitive amplicons and is therefore highly susceptible to structural rearrangements, such as deletions and duplications. The b2/b3 deletion is a partial AZFc deletion that is conventionally determined by the selective absence of sY1191 in sequence-tagged site polymerase chain reaction (PCR) and is generally believed to retain two of the four deleted in azoospermia (DAZ) genes on the Y chromosome. In the present study we determined the copy number and expression of DAZ genes in sY1191-negative individuals. Using a DAZ dosage PCR assay and Southern blot analysis we evaluated the expression of four DAZ genes in five of six sY1191-negative individuals. Furthermore, cloning and immunoblot analyses revealed that three or more DAZ genes are expressed in sY1191-negative testes with germ cells. The results indicate that the selective absence of sY1191 not only means b2/b3 deletion with two DAZ genes, but also includes another AZFc configuration with four DAZ genes. These results exemplify the prevalence of variations in the AZFc region of the human Y chromosome.

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23

Beyaz, C. C., K. Önem, T. Kulaç, S. Gğneş y R. Aşci. "S037: AZFc region subdeletions in male infertility". European Urology Supplements 13, n.º 7 (noviembre de 2014): e1434. http://dx.doi.org/10.1016/s1569-9056(14)61635-3.

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24

Nailwal, Mili y J. B. Chauhan. "Molecular genetic study on AZFa and AZFb sub region microdeletions in infertile men of Gujarat, Western India". Meta Gene 14 (diciembre de 2017): 119–23. http://dx.doi.org/10.1016/j.mgene.2017.08.009.

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25

Kent-First, M., A. Muallem, J. Shultz, J. Pryor, K. Roberts, W. Nolten, L. Meisner et al. "Defining regions of the Y-chromosome responsible for male infertility and identification of a fourth AZF region (AZFd) by Y-chromosome microdeletion detection". Molecular Reproduction and Development 53, n.º 1 (mayo de 1999): 27–41. http://dx.doi.org/10.1002/(sici)1098-2795(199905)53:1<27::aid-mrd4>3.0.co;2-w.

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26

Dinic, Jelena, Jelena Kusic, Аleksandra Nikolic, Aleksandra Divac, Momcilo Ristanovic y Dragica Radojkovic. "Analysis of Y chromosome microdeletions and CFTR gene mutations as genetic markers of infertility in Serbian men". Vojnosanitetski pregled 64, n.º 4 (2007): 253–56. http://dx.doi.org/10.2298/vsp0704253d.

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Background/Aim. Impaired fertility of a male partner is the main cause of infertility in up to one half of all infertile couples. At the genetic level, male infertility can be caused by chromosome aberrations or gene mutations. The presence and types of Y chromosome microdeletions and cystic fybrosis transmembrane conductance regulator (CFTR) gene mutations as genetic cause of male infertility was tested in Serbian men. The aim of this study was to analyze CFTR gene mutations and Y chromosome microdelations as potential causes of male infertility in Serbian patients, as well as to test the hypothesis that CFTR mutations in infertile men are predominantly located in the several last exons of the gene. Methods. This study has encompassed 33 men with oligo- or azoospermia. The screening for Y chromosome microdeletions in the azoospermia factor (AZF) region was performed by multiplex PCR analysis. The screening of the CFTR gene was performed by denaturing gradient gel electrophoresis (DGGE) method. Results. Deletions on Y chromosome were detected in four patients, predominantly in AZFc region (four of total six deletions). Mutations in the CFTR gene were detected on eight out of 66 analyzed chromosomes of infertile men. The most common mutation was F508del (six of total eight mutations). Conclusion. This study confirmed that both Y chromosome microdeletions and CFTR gene mutations played important role in etiology of male infertility in Serbian infertile men. Genetic testing for Y chromosome microdeletions and CFTR gene mutations has been introduced in routine diagnostics and offered to couples undergoing assisted reproduction techniques. Considering that both the type of Y chromosome microdeletion and the type of CFTR mutation have a prognostic value, it is recommended that AZF and CFTR genotyping should not only be performed in patients with reduced sperm quality before undergoing assisted reproduction, but also for the purpose of preimplantation and prenatal diagnostics in couples in which in vitro fertilization has been performed successfully.

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27

Sasidharan, Sreejith Pongillyathundiyil, Sheila Balakrishnan, Krishna Govindan y Chandramohanan Nair K.R. "Cytogenetics and Y Chromosome Microdeletion in Azoospermic Males - A Retrospective Cohort Study from a Tertiary Care Hospital in Kerala". Journal of Evidence Based Medicine and Healthcare 8, n.º 31 (2 de agosto de 2021): 2906–12. http://dx.doi.org/10.18410/jebmh/2021/531.

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BACKGROUND Infertility is the inability to become a parent of a child even after one year of intercourse involving male and female partner without any contraceptives. There are many causes for infertility, Y chromosome microdeletion is one among that. Partial or complete deletion of the proximal Yq region, which contains azoospermic factor (AZF) locus, leads to infertility. Along with genetic and biochemical factors the ethno-geographical reasons also play an important role in infertility. The present study was done to identify the association of genetic and hormonal factors in the development of infertility in azoospermic males of southern Kerala. METHODS Retrospectively screened the medical records of 2100 infertile males of the Department of Reproductive Medicine of Sree Avittom Tirunal Hospital, Government Medical College, Thiruvananthapuram for a period from January 2017 to December 2019. Stringent inclusion criterias were taken to select patients for the molecular study and finally 46 were selected. Structural and numerical chromosome abnormalities were detected using karyotyping and microdeletion was identified using polymerase chain reaction. Electro-chemiluminescence immunoassay method was used for the quantification of reproductive hormones. Demographic data of selected patients were collected from the medical records. RESULTS The cytogenetic results showed that among the selected patients, 10.86 % had Klinefelter syndrome and one person had De la Chapelle syndrome. Partial microdeletion in AZFa, b or c regions have been observed in 13.63 % of the patients. The hormonal analysis showed significant change in concentration of reproductive hormones irrespective of genetic defects. Demographic data showed that the majority of participated patients are unskilled/skilled laborers, economically poor and are from urban areas. CONCLUSIONS The study concludes that among the selected patients, 24.49 % have clinically significant chromosomal abnormalities like Klinefelter syndrome, De la Chappelle syndrome and partial microdeletion on the AZF region. Irrespective of genetic defects, significant changes in the concentration of reproductive hormones are also observed. KEYWORDS Azoospermia, Infertility, Karyotyping, Y Chromosome Microdeletion

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Premi, Sanjay, Jyoti Srivastava, Jörg Thomas Epplen y Sher Ali. "AZFc region of the Y chromosome shows singular structural organization". Chromosome Research 18, n.º 4 (7 de abril de 2010): 419–30. http://dx.doi.org/10.1007/s10577-010-9123-1.

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Tumini, Stefano, Melissa Alfonsi, Silvia Carinci, Elisena Morizio, Ivana Antonucci, Valentina Gatta, Gabriele Lisi et al. "Yq Microdeletion in a Patient with VACTERL Association and Shawl Scrotum with Bifid Scrotum: A Real Pathogenetic Association or a Coincidence?" Cytogenetic and Genome Research 158, n.º 3 (2019): 121–25. http://dx.doi.org/10.1159/000501601.

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VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations have been discovered except for some sporadic chromosomal rearrangements and gene mutations. We report a boy with VACTERL association and shawl scrotum with bifid scrotum who presented with a de novo Yq11.223q11.23 microdeletion identified by array CGH. The deletion spans 3.1 Mb and encompasses several genes in the AZFc region, frequently deleted in infertile men with severe oligozoospermia or azoospermia. Herein, we discuss the possible explanation for this unusual genotype-phenotype correlation. We suggest that the deletion of the BPY2 (previously VCY2) gene, located in the AZFc region and involved in spermatogenesis, contributed to the genesis of the phenotype. In fact, BPY2 interacts with a ubiquitin-protein ligase, involved in the SHH pathway which is known to be implicated in the genesis of VACTERL association.

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Chernykh, V. B., O. P. Ryzhkova, I. A. Kuznetsova, M. S. Kazaryan, T. M. Sorokina, L. F. Kurilo, O. A. Schagina y A. V. Polyakov. "Deletions in AZFc Region of Y Chromosome in Russian Fertile Men". Russian Journal of Genetics 58, n.º 7 (julio de 2022): 850–56. http://dx.doi.org/10.1134/s1022795422070043.

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Vijayalakshmi, J., P. Venkatachalam, Sanjeeeva Reddy, G. Usha Rani y G. Manjula. "Microdeletions of AZFc Region in Infertile Men with Azoospermia and Oligoasthenoteratozoospermia". International Journal of Human Genetics 13, n.º 4 (diciembre de 2013): 183–87. http://dx.doi.org/10.1080/09723757.2013.11886215.

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32

Ferlin, A. "Association of partial AZFc region deletions with spermatogenic impairment and male infertility". Journal of Medical Genetics 42, n.º 3 (1 de marzo de 2005): 209–13. http://dx.doi.org/10.1136/jmg.2004.025833.

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Rozé, Virginie, Jean Luc Bresson y Florence Fellmann. "Quantitative PCR technique for the identification of microrearrangements of the AZFc region". Journal of Assisted Reproduction and Genetics 24, n.º 6 (5 de abril de 2007): 241–48. http://dx.doi.org/10.1007/s10815-006-9055-z.

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34

Yu, Yueh-Hsiang, Yi-Wen Lin, Jane-Fang Yu, Werner Schempp y Pauline H. Yen. "Evolution of the DAZ gene and the AZFc region on primate Y chromosomes". BMC Evolutionary Biology 8, n.º 1 (2008): 96. http://dx.doi.org/10.1186/1471-2148-8-96.

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35

Moro, Enrico, Alberto Ferlin, Pauline Hsiao Yen, Paolo Guanciali Franchi, Giandomenico Palka y Carlo Foresta. "Male Infertility Caused by a de Novo Partial Deletion of the DAZ Cluster on the Y Chromosome1". Journal of Clinical Endocrinology & Metabolism 85, n.º 11 (1 de noviembre de 2000): 4069–73. http://dx.doi.org/10.1210/jcem.85.11.6929.

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Deletions in distal Yq interval 6 represent the cause of 10–15% of idiopathic severe male infertility and map to a region defined AZFc (azoospermia factor c). The testis-specific gene DAZ is considered a major AZFc candidate, and its deletion has been associated with a severe disruption in spermatogenesis. However, DAZ is actually a multicopy gene family consisting of seven clustered copies spanning about 1 megabase. Only deletions removing the entire DAZ gene cluster together with other genes have been reported in infertile males. Because no case of spermatogenic failure has been traced to intragenic deletions, point mutations, or even deletions not involving all the DAZ copies, the definitive proof for a requirement of DAZ for spermatogenesis is still debatable. Here we report the first case of a partial deletion of the DAZ cluster removing all but one of the copies. This deletion is present in a patient affected with severe oligozoospermia who had a testicular phenotype characterized by a great quantitative reduction of germ cells (severe hypospermatogenesis). The absence of this deletion in the fertile brother of the patient suggests that this de novo mutation indeed caused the spermatogenic failure.

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36

Wimmer, R., S. Kirsch, A. Weber, G. A. Rappold y W. Schempp. "The Azoospermia region AZFa: An evolutionar y view". Cytogenetic and Genome Research 99, n.º 1-4 (2002): 146–50. http://dx.doi.org/10.1159/000071586.

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37

Wong, Jason, Patricia Blanco y Nabeel A. Affara. "An exon map of the AZFc male infertility region of the human Y Chromosome". Mammalian Genome 10, n.º 1 (1 de enero de 1999): 57–61. http://dx.doi.org/10.1007/s003359900943.

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Sun, Kairong, Yuqian Xue, Zeljana Prijic, Shunli Wang, Tatjana Markovic, Caihuan Tian, Yingying Wang, Jingqi Xue y Xiuxin Zhang. "DNA Demethylation Induces Tree Peony Flowering with a Low Deformity Rate Compared to Gibberellin by Inducing PsFT Expression under Forcing Culture Conditions". International Journal of Molecular Sciences 23, n.º 12 (14 de junio de 2022): 6632. http://dx.doi.org/10.3390/ijms23126632.

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Gibberellin (GA) is frequently used in tree peony forcing culture, but inappropriate application often causes flower deformity. Here, 5-azacytidine (5-azaC), an efficient DNA demethylating reagent, induced tree peony flowering with a low deformity rate by rapidly inducing PsFT expression, whereas GA treatment affected various flowering pathway genes with strong pleiotropy. The 5-azaC treatment, but not GA, significantly reduced the methylation level in the PsFT promoter with the demethylation of five CG contexts in a 369 bp CG-rich region, and eight light-responsive related cis-elements were also predicted in this region, accompanied by enhanced leaf photosynthetic efficiency. Through GO analysis, all methylation-closer differentially expressed genes (DEGs) were located in the thylakoid, the main site for photosynthesis, and were mainly involved in response to stimulus and single-organism process, whereas GA-closer DEGs had a wider distribution inside and outside of cells, associated with 12 categories of processes and regulations. We further mapped five candidate DEGs with potential flowering regulation, including three kinases (SnRK1, WAK2, and 5PTase7) and two bioactive enzymes (cytochrome P450 and SBH1). In summary, 5-azaC and GA may have individual roles in inducing tree peony flowering, and 5-azaC could be a preferable regulation approach; DNA demethylation is suggested to be more focused on flowering regulation with PsFT playing a core role through promoter demethylation. In addition, 5-azaC may partially undertake or replace the light-signal function, combined with other factors, such as SnRK1, in regulating flowering. This work provides new ideas for improving tree peony forcing culture technology.

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39

Stuppia, L., V. Gatta, I. Fogh, A. R. Gaspari, R. Grande, E. Morizio, D. Fantasia, A. Pizzuti, G. Calabrese y Giandomenico Palka. "Characterization of novel genes in AZF regions". Journal of Endocrinological Investigation 23, n.º 10 (noviembre de 2000): 659–63. http://dx.doi.org/10.1007/bf03343790.

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40

Jiang, Yuting, Yang Yu, Han Zhang, Hongguo Zhang, Meiling Sun y Ruizhi Liu. "Xp;Yq Unbalanced Translocation with Pseudoautosomal Region Aberrations in a Natural Two-Generation Transmission". BioMed Research International 2020 (4 de diciembre de 2020): 1–8. http://dx.doi.org/10.1155/2020/4976204.

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Translocations involving X and Y chromosomes rarely occur in humans and may affect reproductive function. We investigated an Xp:Yq unbalanced translocation with pseudoautosomal region (PAR) aberrations in a natural two-generation transmission. We report the case of an azoospermic male and his fertile mother without any other abnormal clinical phenotypes, except for short stature. Cytogenetic methods, including karyotyping and fluorescence in situ hybridization (FISH), revealed the translocation. Chromosomal microarray comparative genomic hybridization (array-CGH) was used to investigate the regions of Xp partial deletion and Yq partial duplication. Final chromosome karyotypes in the peripheral blood of the infertile male and his mother were 46,Y,der(X)t(X;Y)(p22.33;q11.22) and 46,X,der(X)t(X;Y)(p22.33;q11.22), respectively. Short-stature-homeobox gene deletion was responsible for the short stature in both subjects. PAR aberrations and AZFc duplication may be a direct genetic risk factor for spermatogenesis. This report further supports the use of routine karyotype analysis, FISH-based technology, and array-CGH analysis to identify derivative chromosomes in a complex rearrangement.

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41

Sawai, Hideaki, Shinji Komori y Koji Koyama. "Molecular analysis of the Y chromosome AZFc region in Japanese infertile males with spermatogenic defects". Journal of Reproductive Immunology 53, n.º 1-2 (enero de 2002): 37–44. http://dx.doi.org/10.1016/s0165-0378(01)00090-0.

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42

Hsu, Hui-Kuo, Mei-Tsz Su, Ming Chen, Pauline Yen y Pao-Lin Kuo. "Two Y chromosomes with duplication of the distal long arm including the entire AZFc region". Gene 536, n.º 2 (febrero de 2014): 444–48. http://dx.doi.org/10.1016/j.gene.2013.11.061.

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43

Shin, T. H., A. J. Paterson, J. H. Grant, A. A. Meluch y J. E. Kudlow. "5-Azacytidine treatment of HA-A melanoma cells induces Sp1 activity and concomitant transforming growth factor alpha expression". Molecular and Cellular Biology 12, n.º 9 (septiembre de 1992): 3998–4006. http://dx.doi.org/10.1128/mcb.12.9.3998-4006.1992.

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Evidence indicates DNA methylation as a part of the regulatory machinery controlling mammalian gene expression. The human melanoma cell line HA-A expresses low levels of transforming growth factor alpha (TGF-alpha). TGF-alpha mRNA accumulated, however, in response to DNA demethylation induced by a nucleoside analog, 5-azacytidine (5-azaC). The importance of DNA methylation in the TGF-alpha promoter region was examined by a transient transfection assay with luciferase reporter plasmids containing a portion of the TGF-alpha promoter. 5-azaC treatment of HA-A cells before the transfection caused a significant increase in the luciferase activity. Since input plasmids were confirmed to remain unmethylated, DNA demethylation of the TGF-alpha promoter itself does not account for the observed increase in TGF-alpha mRNA. Using an electrophoretic mobility shift assay, enhanced formation of protein-TGF-alpha promoter complex was detected in response to 5-azaC treatment. This 5-azaC-induced complex was shown to contain the transcription factor Sp1 by the following criteria: the protein-DNA complex formed on the TGF-alpha promoter contained immunoreactive Sp1; the mobility of the complex in an electrophoretic mobility shift assay was similar to that formed by recombinant Sp1; and DNase I footprinting analysis demonstrated that the 5-azaC-induced complex produced a footprint on the TGF-alpha promoter identical to that of authentic Sp1. These observations suggest that 5-azaC induces TGF-alpha expression by augmenting the Sp1 activity. However, neither the Sp1 mRNA nor its protein was induced by 5-azaC. These results suggest that in HA-A cells, TGF-alpha expression is down-modulated by DNA methylation. In addition, this process may involve the specific regulation of Sp1 activity without altering the amount of the transcription factor.

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44

Shin, T. H., A. J. Paterson, J. H. Grant, A. A. Meluch y J. E. Kudlow. "5-Azacytidine treatment of HA-A melanoma cells induces Sp1 activity and concomitant transforming growth factor alpha expression." Molecular and Cellular Biology 12, n.º 9 (septiembre de 1992): 3998–4006. http://dx.doi.org/10.1128/mcb.12.9.3998.

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Evidence indicates DNA methylation as a part of the regulatory machinery controlling mammalian gene expression. The human melanoma cell line HA-A expresses low levels of transforming growth factor alpha (TGF-alpha). TGF-alpha mRNA accumulated, however, in response to DNA demethylation induced by a nucleoside analog, 5-azacytidine (5-azaC). The importance of DNA methylation in the TGF-alpha promoter region was examined by a transient transfection assay with luciferase reporter plasmids containing a portion of the TGF-alpha promoter. 5-azaC treatment of HA-A cells before the transfection caused a significant increase in the luciferase activity. Since input plasmids were confirmed to remain unmethylated, DNA demethylation of the TGF-alpha promoter itself does not account for the observed increase in TGF-alpha mRNA. Using an electrophoretic mobility shift assay, enhanced formation of protein-TGF-alpha promoter complex was detected in response to 5-azaC treatment. This 5-azaC-induced complex was shown to contain the transcription factor Sp1 by the following criteria: the protein-DNA complex formed on the TGF-alpha promoter contained immunoreactive Sp1; the mobility of the complex in an electrophoretic mobility shift assay was similar to that formed by recombinant Sp1; and DNase I footprinting analysis demonstrated that the 5-azaC-induced complex produced a footprint on the TGF-alpha promoter identical to that of authentic Sp1. These observations suggest that 5-azaC induces TGF-alpha expression by augmenting the Sp1 activity. However, neither the Sp1 mRNA nor its protein was induced by 5-azaC. These results suggest that in HA-A cells, TGF-alpha expression is down-modulated by DNA methylation. In addition, this process may involve the specific regulation of Sp1 activity without altering the amount of the transcription factor.

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45

Zhang, Jianzhong, Longyu Li, Qiaoqin Li, Zhonglin Cai, Binbin Wang, Jing Wang y Hongjun Li. "Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report". American Journal of Men's Health 14, n.º 2 (marzo de 2020): 155798832091640. http://dx.doi.org/10.1177/1557988320916402.

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This study aimed to report a rare case of intermittent azoospermia and ring-like small supernumerary marker chromosomes (sSMCs). An infertile man was diagnosed with azoospermia presenting a normal male phenotype with complete masculinization. Karyotyping and polymerase chain reaction (PCR) were used to detect 16 sequence-tagged sites on the AZF subregions of the Y chromosome, and 115 candidate genes were screened for mutations. Mutations included single nucleotide variations, insertions, and deletions. Metaphase chromosomes were studied by standard trypsin-Giemsa banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions; gene mutations were detected. Chromosomal analysis detected 117 metaphase cells; a mosaicism with marker 1 and marker 2 sSMCs in 2 metaphase cells (47, X, +mar1x2 karyotype), a mosaicism with marker 2 sSMCs in 14 metaphase cells (46, X, +mar2 karyotype), and a mosaicism with marker 1 sSMCs in 76 metaphase cells (46, X, +mar1 karyotype), coexisting with a 45,X cell line in the remaining 25 metaphase cells. PCR analysis showed the sY160 heterochromosome on the AZFc subregion was absent. Next-generation sequencing identified an asthenozoospermia-specific mutation in GAPDHS (rs2293681), and Sanger sequencing verified this mutation. This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. A mosaic 46, X, +mar1[76]/45, X[25]/46, X, +mar2[14]/47, X, +mar1x2[2] karyotype could be the main explanation for the azoospermia/severe oligospermia, while the likely pathogenic GAPDHS intron mutation may contribute to the symptom of immotile sperms detected in the semen analysis.

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Pandey, L. K., S. Pandey, J. Gupta y A. K. Saxena. "Loss of the AZFc region due to a human Y-chromosome microdeletion in infertile male patients". Genetics and Molecular Research 9, n.º 2 (2010): 1267–73. http://dx.doi.org/10.4238/vol9-2gmr836.

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Lu, Chuncheng, Jie Jiang, Ruyang Zhang, Ying Wang, Miaofei Xu, Yufeng Qin, Yuan Lin et al. "Gene copy number alterations in the azoospermia-associated AZFc region and their effect on spermatogenic impairment". MHR: Basic science of reproductive medicine 20, n.º 9 (16 de junio de 2014): 836–43. http://dx.doi.org/10.1093/molehr/gau043.

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Navarro-Costa, P., J. Goncalves y C. E. Plancha. "The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility". Human Reproduction Update 16, n.º 5 (18 de marzo de 2010): 525–42. http://dx.doi.org/10.1093/humupd/dmq005.

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Saxena, Richa, Jan W. A. de Vries, Sjoerd Repping, Raaji K. Alagappan, Helen Skaletsky, Laura G. Brown, Peter Ma, Ellson Chen, Jan M. N. Hoovers y David C. Page. "Four DAZ Genes in Two Clusters Found in the AZFc Region of the Human Y Chromosome". Genomics 67, n.º 3 (agosto de 2000): 256–67. http://dx.doi.org/10.1006/geno.2000.6260.

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Zhou, Y., X. Qiu, Y. Luo, J. Yuan, Y. Li, Q. Zhong, M. Zhao y Q. Lu. "Histone modifications and methyl-CpG-binding domain protein levels at the TNFSF7 (CD70) promoter in SLE CD4+ T cells". Lupus 20, n.º 13 (24 de agosto de 2011): 1365–71. http://dx.doi.org/10.1177/0961203311413412.

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Abstract: In systemic lupus erythematosus (SLE), T lymphocytes overexpress CD70 ( TNFSF7 gene), leading to the synthesis of autoreactive IgGs. CD70 upregulation in SLE CD4+ T cells is associated with hypomethylation of TNFSF7 promoter. In this study, we explored histone modifications in the TNFSF7 promoter region in SLE CD4+ T cells, and characterized the effects of a DNA methyltransferase inhibitor (5-azaC) and a histone deacetylase inhibitor (TSA) on CD70 expression. We found that CD70 mRNA was significantly increased in active lupus CD4+ T cells, and in control cells treated with 5-azaC, TSA, or both. Histone H3 acetylation and dimethylated H3 lysine 4 (H3K4me2) levels were significantly elevated in patients with lupus, and both factors correlated positively with disease activity. MeCP2 protein levels within the TNFSF7 promoter decreased in patients with active lupus. Treatment of CD4+ T cells with 5-azaC alone significantly raised H3K4 dimethyl levels at the TNFSF7 locus. TSA treatment significantly increased H3 and H4 acetylation levels, as well as levels of H3K4 dimethylation at the TNFSF7 locus. Treatment with 5-azaC plus TSA enhanced H3 acetylation levels. These findings indicate that aberrant histone modifications within the TNFSF7 promoter may contribute to the development of lupus by increasing CD70 expression in CD4+ T cells.

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