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Sex and death in birds: A model of dosage compensation that predicts lethality of sex chromosome aneuploids

机译:鸟类的性与死亡:剂量补偿模型,可预测性染色体非整倍性的致死性

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Birds show female heterogamety, with ZZ males and ZW females. It is still not clear whether the W is female-determining, or whether two doses of the Z chromosomes are male-determining, or both. This question could easily be settled by the sexual phenotypes fo ZZW and ZO birds, in the same way that the sexual phenotypes of XXY and XO showed that the Y is male determining in humans, but that the dosage of an X-borne gene determines sex in Drosophila. However, despite extensive searches, no ZZW or ZO diploid birds hae been satisfactorily documented, so we must assume that these genotypes are embryonic lethals. Given that ZW and ZZ are viable and the W contains few gens it is not clear why this should be so. Here I propose that sex chromosome aneuploids are lethal in chicken because, to achieve dosage compensation, a locus on the W chromosome controls the upregulation of genes on the Z in ZW females. ZO birds would therefore have only half the normal dose of Z-linked gene product and ZZW would have twice the amount, both of which would undoubtedly be incompatible with life. Reports of other aneuploids and triploids are also consistent with this hypothesis.
机译:鸟类表现出雌性异配,ZZ雄性和ZW雌性。尚不清楚W是雌性决定的,还是两剂Z染色体是雄性决定的,还是两者都是。可以通过ZZW和ZO鸟类的性表型轻松解决这个问题,就像XXY和XO的性表型表明Y是由男性决定的,而X传播基因的剂量决定性别一样在果蝇中。然而,尽管进行了广泛的搜索,但尚未令人满意地记录到ZZW或ZO二倍体鸟类,因此我们必须假定这些基因型是致命的胚胎。鉴于ZW和ZZ是可行的,而W包含的基因很少,因此尚不清楚为什么如此。在这里,我提出性染色体非整倍体在鸡中具有致死性,因为为实现剂量补偿,W染色体上的一个基因座控制着ZW雌性Z上基因的上调。因此,ZO禽只具有Z连锁基因产物正常剂量的一半,而ZZW则具有两倍的剂量,这无疑与生命不相容。其他非整倍体和三倍体的报道也与此假说相符。

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