Bianchi N O, Bianchi M S, Bailliet G, de la Chapelle A
IMBICE, La Plata, Argentina.
Chromosoma. 1993 Jun;102(6):389-95. doi: 10.1007/BF00360403.
The sex determining region Y gene (Sry) is the strongest candidate to be the testis determining factor gene (Tdy). Several South-American Akodon species have two varieties of Y chromosome. One type transmitted via male specimens induces testis development. The second Y variety fails to induce male gonadal differentiation and gives rise to fully fertile XY females. These variant females test positive for Sry. Moreover, sequencing of a partial open reading frame of the conserved region of Sry from males and XY females shows no sequence difference. Sry is two- to sixfold amplified in six of eight akodont species tested. Since Sry amplification was found in species having and not having XY females, amplification apparently does not in itself play a primary role in the origin of sex reversal. The development of fully fertile ovaries in XY Akodon females is not due to a deletion of Sry or to mutations in the Sry segment analyzed in this report. Sex reversal may be due to abnormal expression of this gene at the stage of gonadal differentiation. Alternatively, other genes in the sex-determining pathway may be involved. Several of the Akodon species showing Sry amplification also have amplification of Zfy, which may map to the same region of the Akodon Y chromosome.
Y染色体性别决定区基因(Sry)是作为睾丸决定因子基因(Tdy)的最有力候选基因。几种南美洲的阿氏鼠属物种有两种Y染色体变体。一种通过雄性标本传递的类型会诱导睾丸发育。第二种Y变体无法诱导雄性性腺分化,从而产生完全可育的XY雌性个体。这些变异雌性个体的Sry检测呈阳性。此外,对雄性和XY雌性个体的Sry保守区域部分开放阅读框进行测序,未发现序列差异。在所测试的八个阿氏鼠属物种中,有六个物种的Sry扩增了两到六倍。由于在有和没有XY雌性个体的物种中都发现了Sry扩增,因此扩增本身显然在性反转起源中并不起主要作用。XY阿氏鼠属雌性个体中完全可育卵巢的发育并非由于Sry缺失或本报告中分析的Sry片段发生突变。性反转可能是由于该基因在性腺分化阶段异常表达所致。或者,性别决定途径中的其他基因可能也参与其中。几个显示Sry扩增的阿氏鼠属物种同时也有Zfy扩增,Zfy可能定位在阿氏鼠属Y染色体的同一区域。