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Mutational Analysis of ZFY in Sporadic Parathyroid Adenomas

机译:ZFY在散发性甲状旁腺腺瘤中的突变分析

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Context: The molecular pathogenesis of sporadic parathyroid adenomas is incompletely understood, with alterations in cyclin D1/PRAD1 and MEN1 most firmly established as genetic drivers. The gene encoding the X-linked zinc finger protein ( ZFX ) has recently been implicated in the pathogenesis of a subset of parathyroid adenomas after recurrent, hotspot-focused somatic mutations were identified. ZFX escapes X inactivation and is transcribed from both alleles in women, and a highly homologous gene encoding the Y-linked zinc finger protein ( ZFY ) provides dosage compensation in males.
机译:背景:对散发性甲状旁腺腺瘤的分子发病机理尚未完全了解,其中最重要的细胞周期蛋白D1 / PRAD1和MEN1改变被确定为遗传驱动因素。在确定了以热点为重点的体细胞突变后,甲状旁腺腺瘤的一个子集的发病机制与编码X连锁锌指蛋白(ZFX)的基因有关。 ZFX可以逃脱X的失活,并且可以从女性的两个等位基因中转录出来,而编码Y连锁锌指蛋白(ZFY)的高度同源的基因可以为男性提供剂量补偿。

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