An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.
An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family.
复制标题
常染色体或 X 连锁突变会导致同一家族中出现真正的雌雄同体和 46,XX 雄性。
作者：
Sarah F Slaney;Jennifer Chalmers;N. Affara;L. Chitty
现在已经确定，在早期人类胚胎发育过程中，原始性腺向睾丸的分化取决于SRY基因的存在。然而，在46，XX男性中，与Y染色体无关的基因突变存在完全或部分性别逆转，这表明与SRY相关的几个常染色体基因可能有助于男性表型的正常发育。我们报告了一个家庭，其中四个相关的46xx受试者没有Y染色体DNA序列的证据，经历了不同程度的男性性别分化。一个46，xx男性有明显正常的男性外生殖器，而他的兄弟和两个堂兄弟有不同程度的性别模糊，被发现是46，xx真正的雌雄同体。存在男性性发育的遗传女性通过正常的男性和女性父母传播表明，关键的遗传缺陷很可能是常染色体显性突变，不同的显型效应由不同的外显率引起。其他常染色体位点与男性性发育有关，但涉及的遗传机制尚不清楚。在这个家族中，可能存在一个“激活”突变，它模仿了46，xx例受试者中SRY基因的启动作用。
It is now well established that the differentiation of the primitive gonad into the testis during early human embryonic development depends on the presence of the SRY gene. However, the existence of total or partial sex reversal in 46,XX males with genetic mutations not linked to the Y chromosome suggests that several autosomal genes acting in association with SRY may contribute to normal development of the male phenotype. We report a family in which four related 46,XX subjects with no evidence of Y chromosome DNA sequences underwent variable degrees of male sexual differentiation. One 46,XX male had apparently normal male external genitalia whereas his brother and two cousins had various degrees of sexual ambiguity and were found to be 46,XX true hermaphrodites. The presence of male sexual development in genetic females with transmission through normal male and female parents indicates that the critical genetic defect is most likely to be an autosomal dominant mutation, the different phenotypic effects arising from variable penetrance. Other autosomal loci have been implicated in male sexual development but the genetic mechanisms involved are unknown. In this family there may be an "activating" mutation which mimics the initiating role of the SRY gene in 46,XX subjects.
具有多个尾部异常的女性假两性畸形：缺乏 Y 特异性 DNA 序列作为致病因素。
DOI：
10.1002/ajmg.1320510105
发表时间：
1994
期刊：
American journal of medical genetics
影响因子：
--
作者：
Seaver,LH;Grimes,J;Erickson,RP
通讯作者：
Erickson,RP
影响因子：
20.3
作者：
QUIGLEY, CA;DEBELLIS, A;FRENCH, FS
通讯作者：
FRENCH, FS
假定的睾丸决定因子和相关基因在成人性腺和体细胞组织中表达为离散大小的转录本。
影响因子：
9.8
作者：
Lau,YF;Chan,KM
通讯作者：
Chan,KM