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

Shantha K. Mahadevaiah, Teresa Odorisio, David J. Elliott, Áine Rattigan, Maria Szot, Steven H. Laval, Linda L. Washburn, John R. McCarrey, Bruce M. Cattanach, Robin Lovell-Badge, Paul S. Burgoyne

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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 Y(d1), 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 y(d1) males 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.

Original languageEnglish
Pages (from-to)715-727
Number of pages13
JournalHuman Molecular Genetics
Volume7
Issue number4
DOIs
Publication statusPublished - Apr 1998

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Azoospermia
Spermatogonia
Spermatids
Spermatozoa
Spermatogenesis
Incidence
Genes
Chromosomes, Human, Y
Centromere
Y Chromosome
Transgenes
Germ Cells
Testis
RNA-Binding Motifs
Male sterility due to Y-chromosome deletions

ASJC Scopus subject areas

  • Genetics

Cite this

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. / Mahadevaiah, Shantha K.; Odorisio, Teresa; Elliott, David J.; Rattigan, Áine; Szot, Maria; Laval, Steven H.; Washburn, Linda L.; McCarrey, John R.; Cattanach, Bruce M.; Lovell-Badge, Robin; Burgoyne, Paul S.

In: Human Molecular Genetics, Vol. 7, No. 4, 04.1998, p. 715-727.

Research output: Contribution to journalArticle

Mahadevaiah, Shantha K. ; Odorisio, Teresa ; Elliott, David J. ; Rattigan, Áine ; Szot, Maria ; Laval, Steven H. ; Washburn, Linda L. ; McCarrey, John R. ; Cattanach, Bruce M. ; Lovell-Badge, Robin ; Burgoyne, Paul S. / 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. In: Human Molecular Genetics. 1998 ; Vol. 7, No. 4. pp. 715-727.
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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 Y(d1), 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 y(d1) males 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.",
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