The Y-Chromosome: Genetics of Male Infertility

Authors

  • Greeshma Gopalan Tutor, Physiology Department, Rama Medical College, Hapur, Ghaziabad
  • Sadia Tabassum Khan  Student, M.Sc Medical Physiology, Amity Institute of Physiology & Allied Sciences, Noida, Uttar Pradesh
  • Ketki Sharma  Student,M.Sc Medical Physiology, Amity Institute of Physiology & Allied Sciences, Noida, Uttar Pradesh
  • Aparna Sarkar Associate Professor, Department of Physiology, Amity University, Uttar Pradesh, India

DOI:

https://doi.org/10.53555/hsn.v2i5.274

Keywords:

THE Y-CHROMOSOME, Genetics of Male Infertility

Abstract

Y chromosome is a specific sex chromosome, responsible for male sex determination in humans, and is inherited more or less unchanged, from paternal end to the next generation male, indefinitely. Male specific Y chromosome region or MSY of the chromosome is a non-recombining region, mainly comprising of Sex Determining region of Y (SRY) of short arm; euchromatic regions of both the arms
and heterochromatic region of long arm. In the embryo the initiation of testes differentiation is controlled by the SRY region which encodes the responsible testes determining factor. The functional genes are present in the euchromatic regions whereas the heterochromatic regions lack genes. Both X and Y chromosome has same genes present in their pseudoautosomal region (PAR) due to which there are two functional copies of these genes in both men and women each, which are vital for normal development. Deletion of any of the genes in this chromosome, may therefore, account for infertility in males. Furthermore, since the Y chromosome is being inherited almost unchanged, these alterations, along with the genes may also get inherited to the next progeny. The consequences of these aberrations could be reduced fertility or infertility caused due to conditions such as oligozoospermia (significant lack of sperm) or azoospermia (complete lack of sperm) and so forth.

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References

Yoshida A, Miura K, Shirai M. Cytogenetic survey of 1,007 males. Urol Int 1997;58:166-76.

Dada R, Kumar R, Shamsi MB, Tanwar M, Pathak D, Venkatesh S,et al. Genetic screening in couples experiencing recurrent assisted procreation failure. Ind J Biochem Biophys 2008;45:116-20.

Dada R, Kumar R, Shamsi MB, Kumar R, Kucheria K, Sharma RK,et al. Higher frequency of Yq microdeletions in sperm DNA as compared to DNA isolated from blood. Asian J Androl 2007;9:720-2.

Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008;14:379-90.

Kumar R, Shamsi MB, Gaznavi MI, Jena M, Kucheria K, Kumar R,et al. Structural chromosomal anomalies and their association with reproductive failure. Obstet Gynecol Today 2007;12:152-4.

Meza-Espinoza JP, Anguiano LO, Rivera H. Chromosomal abnormalities in couples with reproductive disorders. Gynecol Obstet Invest 2008;66:237-4.

Boué A, Gallano P. A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 1984;4:45-67.

Daniel A, Hook EB, Wulf G. Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. Am J Med Genet 1989;31:14-53.

Chandley AC, Edmond P, Christie S, Gowans L, Fletcher J, Frackiewicz A,et al. Cytogenetics and infertility in man. II. Testicular histology and meiosis. results of a five year survey of men attending a subfertility clinic. Ann Hum Genet 1976;40:165-76.

Silber S, Escudero T, Lenahan K, Abdelhadi I, Kilani Z, Munné S. Chromosomal abnormalities in embryos derived from testicular sperm extraction. Fertil Steril 2003;79:30-8.

Navarro-Costa P, Gonçalves J, Plancha CE. The AZFc region of the Y chromosome: at the crossroads between genetic diversity and male infertility. Hum Reprod Update 2010;16:525-42.

Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG,et al. The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. Nature 2003;423:825-37.

Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F,et al. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 1996;5:933-43.

Dada R, Gupta NP, Kucheria K. Semen cryopreservation in men with AZFc microdeletion.Clin Genet 2003;64:74-5.

Vogt PH. Genomic heterogeneity and instability of the AZF locus on the human Y chromosome. Mol Cell Endocrinol 2004;224:1-9.

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Published

2016-05-31

How to Cite

Gopalan, G., Khan, S. T., Sharma, K., & Sarkar, A. (2016). The Y-Chromosome: Genetics of Male Infertility. International Journal For Research In Health Sciences And Nursing, 2(5), 08–13. https://doi.org/10.53555/hsn.v2i5.274