Functional characterization of two enhancers located downstream FOXP2
نویسندگان
چکیده
منابع مشابه
Functional genetic characterization by CRISPR-Cas9 of two enhancers of FOXP2 in a child with speech and language impairment
Mutations in the coding region of the FOXP2 transcriptor factor gene are known to cause speech and language impairment. Chromosomal rearrangements with breakpoints downstream the gene have been hypothesised to impair speech and cognitive abilities via physical separation of distant regulatory DNA elements. In this study, we used highly efficient targeted chromosomal deletions induced by the CRI...
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Haploinsufficiency of the single-minded homology 1 (SIM1) gene in humans and mice leads to severe obesity, suggesting that altered expression of SIM1, by way of regulatory elements such as enhancers, could predispose individuals to obesity. Here, we identified transcriptional enhancers that could regulate SIM1, using comparative genomics coupled with zebrafish and mouse transgenic enhancer assa...
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Mutations of the FOXP2 gene cause a severe speech and language disorder, providing a molecular window into the neurobiology of language. Individuals with FOXP2 mutations have structural and functional alterations affecting brain circuits that overlap with sites of FOXP2 expression, including regions of the cortex, striatum, and cerebellum. FOXP2 displays complex patterns of expression in the br...
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نقش سرکوبگری پروتئین p0 در دو پولروویروس کوتولگی زردی غلات cydv-rpv) و (cydv-rps، متفاوت در شدت بیماریزایی، مورد مطالعه قرار گرفت. نتایج نشان داد که هر دو پروتئین p0 p0cy-rpv) و (p0cy-rps قادر به سرکوب خاموشی آر ان ای ایجاد شده توسط ترادف های تراژن سنس و تکرار معکوس در n. benthamiana هستند. نشان داده شد که هر دو پروتئین p0 می توانند تخریب پروتئین argonaute-1 را تسهیل کنند. علاوه بر این، تمایل م...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2019
ISSN: 1471-2350
DOI: 10.1186/s12881-019-0810-2