Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral HERV sequence blocksReportar como inadecuado




Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral HERV sequence blocks - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

BMC Medical Genetics

, 15:90

First Online: 19 August 2014Received: 03 September 2013Accepted: 18 July 2014

Abstract

BackgroundHuman endogenous retroviral HERV sequences are the remnants of ancient retroviral infection and comprise approximately 8% of the human genome. The high abundance and interspersed nature of homologous HERV sequences make them ideal substrates for genomic rearrangements. A role for HERV sequences in mediating human disease-associated rearrangement has been reported but is likely currently underappreciated.

Methods and ResultsIn the present study, two independent de novo 8q13.2-13.3 microdeletion events were identified in patients with clinical features of Branchio-Oto-Renal BOR syndrome. Nucleotide-level mapping demonstrated the identical breakpoints, suggesting a recurrent microdeletion including multiple genes such as EYA1, SULF1, and SLCO5A1, which is mediated by HERV1 homologous sequences.

ConclusionsThese findings raise the potential that HERV sequences may more commonly underlie recombination of dosage sensitive regions associated with recurrent syndromes.

KeywordsDe novo 8q13.2-13.3 microdeletion Human endogenous retroviral HERV sequences Branchio-oto-renal syndrome Mesomelia-synostoses syndrome Electronic supplementary materialThe online version of this article doi:10.1186-s12881-014-0090-9 contains supplementary material, which is available to authorized users.

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Autor: Xiaoli Chen - Jun Wang - Elyse Mitchell - Jin Guo - Liwen Wang - Yu Zhang - Jennelle C Hodge - Yiping Shen

Fuente: https://link.springer.com/



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