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首页> 外文期刊>Genomics >Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)
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Evolutionary history of linked D4Z4 and Beta satellite clusters at the FSHD locus (4q35)

机译：FSHD位点（4q35）链接的D4Z4和Beta卫星星团的演化历史

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We performed a detailed genomic investigation of the chimpanzee locus syntenic to human chromosome 4q35.2, associated to the facioscapulohumeral dystrophy. Two contigs of approximately 150?kb and 200?kb were derived from PTR chromosomes 4q35 and 3p12, respectively: both regions showed a very similar sequence organization, including D4Z4 and Beta satellite linked clusters. Starting from these findings, we derived a hypothetical evolutionary history of human 4q35, 10q26 and 3p12 chromosome regions focusing on the D4Z4–Beta satellite linked organization. The D4Z4 unit showed an open reading frame (DUX4) at both PTR 4q35 and 3p12 regions; furthermore some subregions of the Beta satellite unit showed a high degree of conservation between chimpanzee and humans. In conclusion, this paper provides evidence that at the 4q subtelomere the linkage between D4Z4 and Beta satellite arrays is a feature that appeared late during evolution and is conserved between chimpanzee and humans.
机译：我们对与人头肩肱型营养不良有关的人类染色体4q35.2的黑猩猩基因座进行了详细的基因组研究。 PTR染色体4q35和3p12分别衍生出两个大约150？kb和200？kb的重叠群：两个区域都显示出非常相似的序列组织，包括D4Z4和Beta卫星连锁簇。从这些发现出发，我们得出了人类4q35、10q26和3p12染色体区域的假设进化史，重点关注D4Z4 – Beta卫星连锁组织。 D4Z4单元在PTR 4q35和3p12区域均显示一个开放阅读框（DUX4）。此外，Beta卫星单位的某些次区域在黑猩猩和人类之间表现出高度的保守性。总之，本文提供了证据，表明在4q亚端粒处，D4Z4和Beta卫星阵列之间的联系是一种在进化后期出现的特征，在黑猩猩和人类之间是保守的。

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