Review Article J Mol Genet Med (December 2005), 1(2), 63-75 doi: jmgm Published online: 6 December 2005 Full Text: (html | pdf ~441kb | refs) Human Y-chromosome variation and male dysfunction Cláudia Márcia Benedetto de Carvalho † and Fabrício Rodrigues Santos ‡* † Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Minas Gerais, Brazil Correspondence to: Fabrício Rodrigues Santos, Email: fsantos@icb.ufmg.br, Tel: +55 31 34992581, Fax: +55 31 34992570 Received: 26 August 2005, Revised: 30 September 2005, Accepted: 05 October 2005 © Copyright The Author ----------------------------------------------------------------------------------------------------------------- ABSTRACT The Y-chromosome is responsible for sex determination in mammals, which is triggered by the expression of the SRY gene, a testis-determining factor. This particular gene, as well as other genes related to male fertility, are located in the non-recombining portion of the Y (NRY), a specific region that encompasses 95% of the human Y-chromosome. The other 5% is composed of the pseudo-autosomal regions (PARs) at the tips of Yp and Yq, a X-chromosome homologous region used during male meiosis for the correct pairing of sexual chromosomes. Despite of the large size of the human NRY (about 60 Mb), only a few active genes are found in this region, most of which are related to fertility. Recently, several male fertility dysfunctions were associated to microdeletions by STS mapping. Now that the complete genetic map of the human Y-chromosome is available, the role of particular NRY genes in fertility dysfunctions is being investigated. Besides, along with the description of several nucleotide and structural variations in the Y-chromosome, the association between phenotype and genotype is being addressed more precisely. Particularly, several research groups are investigating the association between Y-chromosome types and susceptibility to certain male dysfunctions in different population backgrounds. New insights on the role of the Y-chromosome and maleness are being envisaged by this approach. KEYWORDS: Y-chromosome, male dysfunction, infertility, pseudo-autosomal region, non-recombining Y, population structure ----------------------------------------------------------------------------------------------------------------- Privacy | Disclaimer |