Genetics of male infertility and related genes within Y chromosome

Main Article Content

Tutku Melis Aygün

Abstract

Objective:  The infertility is a reproductive health problem that affects nearly 7% of all couples in the human population. It has been estimated that nearly 50% of infertility cases are due to genetic defects. Male infertility may be contributory to 30 - 40 % of infertile couples. Male infertility focuses on genetic factors impairing spermatogenesis and structural abnormalities such as Y chromosome microdeletions. The Y chromosome microdeletions are the most frequent genetic cause of male infertility. In this review article, we will focus on the structural abnormality and related gene functions on infertility.


 

Downloads

Download data is not yet available.

Article Details

How to Cite
Aygün, T. M. (2019). Genetics of male infertility and related genes within Y chromosome. Medical Science and Discovery, 6(11), 288–291. https://doi.org/10.36472/msd.v6i11.322
Section
Review Article
Received 2019-11-04
Accepted 2019-11-27
Published 2019-11-30

References

Polani PE. Experiments on chiasmata and nondisjunction in mice. Hum Genet Suppl. 1981;2:145–146.

Sinclair AH, Berta P, Palmer MS, et al. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature. 1990;346:240–244.

Lahn BT, Page D. Functional coherence of the human Y chromosome. Science. 1997;278:675–680.

Tiepolo L, Zuffardi O. Localization of factors controlling spermatogenesis in the nonfluorescent portion of the human Y chromosome long arm. Hum Genet. 1976;34:119–124.

Jacobs PA, Ross A. Structural abnormalities of the Y chromosome in man. Nature. 1966;210:352–354.

Buhler EM. A synopsis of the human Y chromosome. Hum Genet. 1980;55:145–175.

Vergnaud G, Page DC, Simmler MC, et al. A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet. 1986;38:109–124. [PMC free article]

Vollrath D, Foote S, Hilton A, et al. The human Y chromosome: a 43-interval map based on naturally occuring deletions. Science. 1992;258:52–59.

Foote S, Vollrath D, Hilton A, et al. The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science. 1992;258:60–66.

Graves JAM. The origin and function of the mammalian Y chromosome and Y-borne genes—an evolving understanding. Bioessays. 1995;17:311–320.

Bull JJ. Evolution of sex determining mechanism. Menlo Park: Benjamin Cummings.

Arnemann AJ, Epplen J, Cooke H, et al. A human Y chromosomal DNA sequence expressed in testicular tissue. Nucl Acids Res. 1987;15:8713–8724. [PMC free article]

Page DC, Mosher R, Simpson, et al. The sex-determining region of the human Y chromosome encodes a finger protein. Cell. 1987;51:1091–1104.

Fisher EMC, Beer-Romero P, Brown LG, et al. Homologous ribosomal protein genes on the human X and Y chromosome: escape from X inactivation and possible implication for Turner Syndrome. Cell. 1990;63:1205–1218.

Hassold TJ, Sherman SL, Pettay D, Page DC, Jacobs PA. XY chromosome nondisjunction in man is associated with diminished recombination in the pseudoautosomal region. Am J Hum Genet. 1991;49:253–260. [PMC free article]

Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, et al. The DNA sequence of the human X chromosome. Nature. 2005;434:325–337. [PMC free article]

Ellison JW, Wardak Z, Young MF, GehronRobey P, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of turner syndrome. Hum Mol Genet. 1997;6:1341–1347.

Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and turner syndrome. Nat Genet. 1997;16:54–63.

Lencz T, Morgan TV, Athanasiou M, Dain B, Reed CR, et al. Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry. 2007;12:572–580.

Flaquer A, Jamra RA, Etterer K, Dı’az GO, Rivas F, et al. A new susceptibility locus for bipolar affective disorder in PAR1 on Xp22.3/Yp11.3. Am J Med Genet. 2010;153B:1110–1114.

Mangs Helena A, Morris BJ. The human pseudoautosomal region (PAR): origin, function and future. Curr Genomics. 2007;8:129–136. [PMC free article]

Charchar FJ, Svartman M, El-Mogharbel N, Ventura M, Kirby P, Matarazzo MR, Ciccodicola A, Rocchi M, D’Esposito M, Graves JA. Complex events in the evolution of the human pseudoautosomal region 2 (PAR2) Genome Res. 2003;13:281–286. [PMC free article]

Lopes AM, Ross N, Close J, Dagnall A, Amorim A, Crow TJ. Inactivation status of PCDH11X: sexual dimorphisms in gene expression levels in brain. Hum Genet. 2006;119:267–275.

Veerappa AM, Padakannaya P, Ramachandra NB. Copy number variation-based polymorphism in a new pseudoautosomal region 3 (PAR3) of a human X-chromosome-transposed region (XTR) in the Y chromosome. Funct Integr Genomics. 2013;13:285–293.

Manz E, Alkan M, Bühler E, Schmidtke J. Arrangement of DYZ1 and DYZ2 repeats on the human Y-chromosome: a case with presence of DYZ1 and absence of DYZ2. Mol Cell Probes. 1992;6:257–259.

Cotter PD, Norton ME. Y chromosome heterochromatin variation detected at prenatal diagnosis. Prenat Diagn. 2005;25:1062–1063.

Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature. 2003;423:825–837.

Maan AA, Eales J, Akbarov A, Rowland J, Xu X, Jobling MA, Charchar FJ, Tomaszewski M. The Y chromosome: a blueprint for men’s health? Eur J Hum Genet. 2017;25:1181–1188. [PMC free article]

Meyfour A, Pooyan P, Pahlavan S, Rezaei-Tavirani M, Gourabi H, Baharvand H, Salekdeh GH. Chromosome-centric human proteome project allies with developmental biology: a case study of the role of Y chromosome genes in organ development. J Prot Res. 2017; 10.1021/acs.jproteome.7b00446. [PubMed]

Rengaraj D, Kwon WS, Pang MG. Bioinformatics annotation of human Y chromosome-encoded protein pathways and interactions. J Prot Res. 2015;14:3503–3518.