title: Mouse homologues of the human AZF candidate gene RBM are expressed in spermatogonia and spermatids, and map to a Y chromosome deletion interval associated with a high incidence of sperm abnormalities.
abstract: An RNA-binding motif (RBM) gene family has been identified on the human Y chromosome that maps to the same deletion interval as the 'azoospermia factor' (AZF). We have identified the homologous gene family (Rbm) on the mouse Y with a view to investigating the proposal that this gene family plays a role in spermatogenesis. At least 25 and probably >50 copies of Rbm are present on the mouse Y chromosome short arm located between Sry and the centromere. As in the human, a role in spermatogenesis is indicated by a germ cell-specific pattern of expression in the testis, but there are distinct differences in the pattern of expression between the two species. Mice carrying the deletion Yd1, that maps to the proximal Y short arm, are female due to a position effect resulting in non-expression of Sry ; sex-reversing such mice with an Sry transgene produces males with a high incidence of abnormal sperm, making this the third deletion interval on the mouse Y that affects some aspect of spermatogenesis. Most of the copies of Rbm map to this deletion interval, and the Yd1males have markedly reduced Rbm expression, suggesting that RBM deficiency may be responsible for, or contribute to, the abnormal sperm development. In man, deletion of the functional copies of RBM is associated with meiotic arrest rather than sperm anomalies; however, the different effects of deletion are consistent with the differences in expression between the two species.
authors.affiliation: Laboratory of Developmental Genetics, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.
authors.forename: S K
authors.initials: SK
authors.lastname: Mahadevaiah
authors.forename: T
authors.initials: T
authors.lastname: Odorisio
authors.forename: D J
authors.initials: DJ
authors.lastname: Elliott
authors.forename: A
authors.initials: A
authors.lastname: Rattigan
authors.forename: M
authors.initials: M
authors.lastname: Szot
authors.forename: S H
authors.initials: SH
authors.lastname: Laval
authors.forename: L L
authors.initials: LL
authors.lastname: Washburn
authors.forename: J R
authors.initials: JR
authors.lastname: McCarrey
authors.forename: B M
authors.initials: BM
authors.lastname: Cattanach
authors.forename: R
authors.initials: R
authors.lastname: Lovell-Badge
authors.forename: P S
authors.initials: PS
authors.lastname: Burgoyne
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D018076:DNA, Complementary / Q000032:analysis; D012734:Disorders of Sex Development; D014644:Genetic Variation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D013087:Spermatids / Q000378:metabolism*; D013091:Spermatogenesis / Q000235:genetics; D013093:Spermatogonia / Q000378:metabolism*; D014998:Y Chromosome / Q000235:genetics
chemical_list: D018076:DNA, Complementary; D009687:Nuclear Proteins; C501499:RBMY1A1 protein, human; D016601:RNA-Binding Proteins; C501500:Rbmy protein, mouse