Mahadevaiah S K, Odorisio T, Elliott D J, Rattigan A, Szot M, Laval S H, Washburn L L, McCarrey J R, Cattanach B M, Lovell-Badge R, Burgoyne P S
Laboratory of Developmental Genetics, National Institute for Medical Research, The Ridgeway, Mill Hill, London NW7 1AA, UK.
Hum Mol Genet. 1998 Apr;7(4):715-27. doi: 10.1093/hmg/7.4.715.
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.
在人类Y染色体上已鉴定出一个RNA结合基序（RBM）基因家族，其定位到与“无精子症因子”（AZF）相同的缺失区间。我们在小鼠Y染色体上鉴定出了同源基因家族（Rbm），旨在研究该基因家族在精子发生过程中发挥作用的假说。在位于Sry和着丝粒之间的小鼠Y染色体短臂上，至少存在25个，可能超过50个Rbm拷贝。与人类一样，睾丸中生殖细胞特异性的表达模式表明其在精子发生中起作用，但两个物种之间的表达模式存在明显差异。携带定位到近端Y短臂的缺失Yd1的小鼠由于位置效应导致Sry不表达而表现为雌性；用Sry转基因使这些小鼠性逆转产生的雄性具有高比例的异常精子，这使得这成为小鼠Y染色体上影响精子发生某些方面的第三个缺失区间。大多数Rbm拷贝定位到这个缺失区间，Yd1雄性小鼠的Rbm表达明显降低，这表明RBM缺陷可能是异常精子发育的原因或促成因素。在人类中，RBM功能拷贝的缺失与减数分裂停滞而非精子异常有关；然而，缺失的不同影响与两个物种之间的表达差异是一致的。
