Dorsett Dale
Am J Med Genet C Semin Med Genet. 2016 Jun;172(2):129-37. doi: 10.1002/ajmg.c.31490. Epub 2016 Apr 20.
Discovery of genetic alterations that cause human birth defects provide key opportunities to improve the diagnosis, treatment, and family counseling. Frequently, however, these opportunities are limited by the lack of knowledge about the normal functions of the affected genes. In many cases, there is more information about the gene's orthologs in model organisms, including Drosophila melanogaster. Despite almost a billion years of evolutionary divergence, over three-quarters of genes linked to human diseases have Drosophila homologs. With a short generation time, a twenty-fold smaller genome, and unique genetic tools, the conserved functions of genes are often more easily elucidated in Drosophila than in other organisms. Here we present how this applies to Cornelia de Lange syndrome, as a model for how Drosophila can be used to increase understanding of genetic syndromes caused by mutations with broad effects on gene transcription and exploited to develop novel therapies. © 2016 Wiley Periodicals, Inc.
发现导致人类出生缺陷的基因改变为改善诊断、治疗和家庭咨询提供了关键契机。然而，这些契机常常因对受影响基因的正常功能缺乏了解而受到限制。在许多情况下，关于模式生物（包括黑腹果蝇）中基因直系同源物的信息更多。尽管经过了近十亿年的进化分化，但与人类疾病相关的基因中，超过四分之三都有果蝇同源物。由于果蝇世代时间短、基因组小二十倍且拥有独特的遗传工具，基因的保守功能在果蝇中往往比在其他生物中更容易阐明。在此，我们以科妮莉亚·德·朗格综合征为例，说明果蝇如何用于增进对由对基因转录有广泛影响的突变所引起的遗传综合征的理解，并借此开发新疗法。© 2016威利期刊公司
