title: The human Y chromosome: a masculine chromosome.
abstract: 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.
authors.affiliation: Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Academic Medical Center, Amsterdam, The Netherlands.
authors.forename: Michiel J
authors.initials: MJ
authors.lastname: Noordam
authors.forename: Sjoerd
authors.initials: S
authors.lastname: Repping
mesh_terms: 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
chemical_list: D029589:Seminal Plasma Proteins