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- W2157403755 endingPage "1771" @default.
- W2157403755 startingPage "1765" @default.
- W2157403755 abstract "Gene duplications alter the genetic constitution of organisms and can be a driving force of molecular evolution in humans and the great apes. In this context, the study of genomic disorders has uncovered the essential role played by the genomic architecture, especially low copy repeats (LCRs) or segmental duplications (SDs). In fact, regardless of the mechanism, LCRs can mediate or stimulate rearrangements, inciting genomic instability and generating dynamic and unstable regions prone to rapid molecular evolution. In humans, copy-number variation (CNV) has been implicated in common traits such as neuropathy, hypertension, color blindness, infertility, and behavioral traits including autism and schizophrenia, as well as disease susceptibility to HIV, lupus nephritis, and psoriasis among many other clinical phenotypes. The same mechanisms implicated in the origin of genomic disorders may also play a role in the emergence of segmental duplications and the evolution of new genes by means of genomic and gene duplication and triplication, exon shuffling, exon accretion, and fusion/fission events." @default.
- W2157403755 created "2016-06-24" @default.
- W2157403755 creator A5000612576 @default.
- W2157403755 creator A5083240572 @default.
- W2157403755 creator A5084027644 @default.
- W2157403755 date "2010-01-13" @default.
- W2157403755 modified "2023-10-07" @default.
- W2157403755 title "Genomic disorders: A window into human gene and genome evolution" @default.
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