title: The relationship between Y chromosome DNA haplotypes and Y chromosome deletions leading to male infertility.
abstract: Microdeletions on the short arm of the Y chromosome have defined three non-overlapping regions (AZFa, b, c) recurrently deleted among infertile males. These regions contain several genes or gene families involved in male germ-cell development and maintenance. Even though a meiotic origin for these microdeletions is assumed, the mechanisms and causes leading to microdeletion formation are largely unknown. In order to assess whether some Y chromosome groups (or haplogroups) are predisposed to, or protected against, deletion formation during male meiosis, we have defined and compared Y chromosome haplogroup distribution in a group of infertile/subfertile males harbouring Yq deletions and in a relevant Northwestern European control population. Our analyses suggest that Y chromosome deletion formation is, at least in the study populations, a stochastic event independent of the Y chromosome background on which they arise and may be caused by other genetic and/or environmental factors.
authors.affiliation: Unité d'Immunogénétique Humaine INSERM E021, Institut Pasteur, Paris, France.
authors.forename: L
authors.initials: L
authors.lastname: Quintana-Murci
authors.forename: C
authors.initials: C
authors.lastname: Krausz
authors.forename: E
authors.initials: E
authors.lastname: Heyer
authors.forename: J
authors.initials: J
authors.lastname: Gromoll
authors.forename: I
authors.initials: I
authors.lastname: Seifer
authors.forename: D E
authors.initials: DE
authors.lastname: Barton
authors.forename: T
authors.initials: T
authors.lastname: Barrett
authors.forename: N E
authors.initials: NE
authors.lastname: Skakkebaek
authors.forename: E
authors.initials: E
authors.lastname: Rajpert-De Meyts
authors.forename: M
authors.initials: M
authors.lastname: Mitchell
authors.forename: A C
authors.initials: AC
authors.lastname: Lee
authors.forename: M A
authors.initials: MA
authors.lastname: Jobling
authors.forename: K
authors.initials: K
authors.lastname: McElreavey
mesh_terms: D002872:Chromosome Deletion; D006239:Haplotypes; D006801:Humans; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D014998:Y Chromosome