Y-linked spermatogenic failure

Definition:

The important role of the human Y chromosome in the causation of male infertility is increasingly recognized. The Y chromosome harbors a number of genes essential for testis development and function.

References:

[1]. A Ferlin, et al. Association of partial AZFc region deletions with spermatogenic impairment and male infertility. J Med Genet. 2005 Mar;42(3):209-13. [Content Brief]

[2]. Abdelmajid Eloualid, et al. Association of spermatogenic failure with the b2/b3 partial AZFc deletion. PLoS One. 2012;7(4):e34902. [Content Brief]

[3]. C Foresta, et al. Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility. Hum Mol Genet. 2000 May 1;9(8):1161-9. [Content Brief]

[4]. C Sun, et al. An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y. Nat Genet. 1999 Dec;23(4):429-32. [Content Brief]

[5]. Chuncheng Lu, et al. The association of Y chromosome haplogroups with spermatogenic failure in the Han Chinese. J Hum Genet. 2007;52(8):659-663. [Content Brief]

[6]. Elaine Y M Wong, et al. VCY2 protein interacts with the HECT domain of ubiquitin-protein ligase E3A. Biochem Biophys Res Commun. 2002 Sep 6;296(5):1104-11. [Content Brief]

[7]. N Machev, et al. Sequence family variant loss from the AZFc interval of the human Y chromosome, but not gene copy loss, is strongly associated with male infertility. J Med Genet. 2004 Nov;41(11):814-25. [Content Brief]

[8]. Sjoerd Repping, et al. A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region. Genomics. 2004 Jun;83(6):1046-52. [Content Brief]

[9]. Stacy Colaco, et al. Genetics of the human Y chromosome and its association with male infertility. Reprod Biol Endocrinol. 2018 Feb 17;16(1):14. [Content Brief]

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