基因重复导致性别模糊

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在每3000例新生儿中,就有一例医生无法告知新手父母一些人期待听到的消息——即他们生的是男孩还是女孩。但是,《美国人类遗传学杂志》五月号上描述的一项研究结果,可能会为那些婴儿出生时性别模糊的父母带来新的希望。根据该报告,研究人员已经确定,一种名为WNT-4的性别决定基因的第二个副本可以将胚胎从男性变为女性,这通常会导致生殖器模糊。这一发现可能有助于医生更准确、更快速地识别外部性别模糊的婴儿的性别。

加州大学洛杉矶分校的遗传学家埃里克·维莱恩和他的同事们确定WNT-4是决定性别的几个基因之一。大多数基因缺陷源于基因的缺失或突变,而生殖器缺陷则发生在染色体上出现两次WNT-4时。维莱恩指出,WNT-4似乎“在性别决定途径的每一步都产生影响”。“我们发现,当基因的数量在遗传蓝图的任何阶段即使发生轻微波动时,它也会将胚胎从男性变为女性。”

WNT-4研究结果将使研究人员能够利用基因检测来帮助确定生殖器模糊的原因。此外,科学家们甚至可能有一天能够在子宫内治疗有缺陷的胚胎。维莱恩评论说:“我们的发现表明,临床医生可以在产前识别出WNT-4重复。”“如果这被证明是正确的,那么未来我们或许能够在子宫内纠正缺陷,并将胚胎恢复到其原始的男性状态。这可能会在孩子出生前修复生殖器畸形。”

Kate Wong is an award-winning science writer and senior editor at 大众科学 focused on evolution, ecology, anthropology, archaeology, paleontology and animal behavior. She is fascinated by human origins, which she has covered for more than 25 years. Recently she has become obsessed with birds. Her reporting has taken her to caves in France and Croatia that Neandertals once called home, to the shores of Kenya's Lake Turkana in search of the oldest stone tools in the world, to Madagascar on an expedition to unearth ancient mammals and dinosaurs, to the icy waters of Antarctica, where humpback whales feast on krill, and on a "Big Day" race around the state of Connecticut to find as many bird species as possible in 24 hours. Kate is co-author, with Donald Johanson, of Lucy's Legacy: The Quest for Human Origins. She holds a bachelor of science degree in biological anthropology and zoology from the University of Michigan. Follow Wong on X (formerly Twitter) @katewong

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