Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.
Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.
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DOI：
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发表时间：
1995-12
影响因子：
9.8
通讯作者：
K. Tsuchiya;R. Reijo;D. Page;C. Disteche
中科院分区：
文献类型：
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作者：
K. Tsuchiya;R. Reijo;D. Page;C. Disteche
使用序列标记位点，我们进行了Y染色体的性反转的女性患者的Y染色体和性腺母细胞瘤的缺失映射。GBY基因（Y染色体上的性腺母细胞瘤基因座）亚定位于Y染色体着丝粒附近的一个小区域。我们估计GBY临界区的大小约为1-2 Mb。我们的分析还表明，两个分散的Y-连锁基因家族，TSPY（睾丸特异性蛋白，Y-编码）和YRRM（Y染色体RNA识别基序）的副本存在于所有患者和TSPY的副本，但不是YRRM属于GBY的关键区域正式定义的删除映射。两个肿瘤样本显示这两种基因的表达，在一个病人，这种表达仅限于单侧性腺母细胞瘤，但在对侧条纹性腺缺席。虽然我们的研究结果并没有直接牵连TSPY或YRRM的肿瘤的病因，他们提出的问题是否有一个GBY基因的关键区域或可能多个GBY基因座分散在Y染色体上。
Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY critical region to be approximately 1-2 Mb. Our analysis also indicates that copies of two dispersed Y-linked gene families, TSPY (testis-specific protein, Y-encoded) and YRRM (Y-chromosome RNA recognition motif) are present in all patients and that copies of TSPY but not YRRM fall within the GBY critical region as formally defined by deletion mapping. Two tumor samples showed expression of both genes and in one patient this expression was limited to a unilateral gonadoblastoma but absent in the contralateral streak gonad. Although our results do not directly implicate TSPY or YRRM in the etiology of the tumor, they raise the issue of whether there is one GBY gene in the critical region or possibly multiple GBY loci dispersed on the Y chromosome.