The human Y chromosome: a masculine chromosome.
Once considered to be a genetic wasteland of no scientific interest beyond sex determination, the human Y chromosome has made a significant comeback in the past few decades and is currently implicated in multiple diseases, including spermatogenic failure - absent or very low levels of sperm production. The Y chromosome contains over one hundred testis-specific transcripts, and several deletions have been described that remove some of these transcripts, thereby causing spermatogenic failure. Screening for such deletions in infertile men is now a standard part of clinical evaluation. Many other Y-chromosome structural variants, some of which affect gene copy number, have been reported recently, and future research will be necessary to address the phenotypic effect of these structural variants.
Noordam
Michiel J
MJ
Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands.
Repping
Sjoerd
S
D000818:Animals; D001483:Base Sequence; D041322:Chromosomes, Human, Y / Q000235:genetics*; D017353:Gene Deletion; D056426:Genetic Loci; D014644:Genetic Variation / Q000235:genetics; D006801:Humans; D008297:Male; D010641:Phenotype; D029589:Seminal Plasma Proteins / Q000235:genetics
D029589:Seminal Plasma Proteins