title: Male reproductive function and the human Y chromosome: is selection acting on the Y?
abstract: The human Y chromosome encodes genes that are essential for male sex determination, spermatogenesis and protection against Turner stigmata. In recent years mutations have been identified in Y-chromosome genes associated with these phenotypes and a series of microdeletions of the long arm of the Y have been defined that are specifically associated with male infertility. In parallel, the discovery of polymorphic markers on the Y, comprising of both slow-mutating binary markers and rapidly-mutating microsatellites, has enabled the high resolution definition of a large number of paternal lineages (haplogroups). These Y-chromosome haplogroups have been extensively used to trace population movements and understand human origins and histories, but recently a growing number of association studies have been performed aimed at assessing the relationship between the Y-chromosome background and Y-linked phenotypes such as infertility and male-specific cancers. These preliminary studies, comparing haplogroup distributions between case and control populations, are promising and suggest an association between different Y-chromosome lineages, sperm counts and prostate cancer. However, we highlight the need to extend these studies to other world populations. Increased sample numbers and a better haplogroup resolution using additional binary markers in association studies are necessary. By these approaches novel associations between Y-chromosome haplotypes and disease may be revealed and the degree to which selection is acting on the human Y chromosome may be determined.
authors.affiliation: Reproduction, Fertility and Populations, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France. kenmce@pasteur.fr
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
authors.forename: Lluís
authors.initials: L
authors.lastname: Quintana-Murci
mesh_terms: D041322:Chromosomes, Human, Y / Q000648:ultrastructure*; D004777:Environment; D017353:Gene Deletion; D005787:Gene Frequency; D006238:Haploidy; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male; D008297:Male; D018895:Microsatellite Repeats; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D010641:Phenotype; D010802:Phylogeny; D011110:Polymorphism, Genetic; D019849:Sex Determination Processes; D013091:Spermatogenesis; D013094:Spermatozoa / Q000166:cytology