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 language | English |
|---|---|
| Pages (from-to) | 715-727 |
| Number of pages | 13 |
| Journal | Human Molecular Genetics |
| Volume | 7 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Apr 1998 |
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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 journal › Article
}
TY - JOUR
T1 - 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
AU - Mahadevaiah, Shantha K.
AU - Odorisio, Teresa
AU - Elliott, David J.
AU - Rattigan, Áine
AU - Szot, Maria
AU - Laval, Steven H.
AU - Washburn, Linda L.
AU - McCarrey, John R.
AU - Cattanach, Bruce M.
AU - Lovell-Badge, Robin
AU - Burgoyne, Paul S.
PY - 1998/4
Y1 - 1998/4
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=6844266287&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=6844266287&partnerID=8YFLogxK
U2 - 10.1093/hmg/7.4.715
DO - 10.1093/hmg/7.4.715
M3 - Article
C2 - 9499427
AN - SCOPUS:6844266287
VL - 7
SP - 715
EP - 727
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 4
ER -