TY - JOUR
T1 - Recurrent 8q13.2-13.3 microdeletions associated with Branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks
AU - Chen, Xiaoli
AU - Wang, Jun
AU - Mitchell, Elyse
AU - Guo, Jin
AU - Wang, Liwen
AU - Zhang, Yu
AU - Hodge, Jennelle C.
AU - Shen, Yiping
N1 - Funding Information:
We appreciate the patients and their families for their participation. This work was supported by the National Natural Science Foundation of China (No. 81371903 to YPS and 81100841 to XLC), Beijing Municipal Science & Technology Commission (Z131107002213159 to JW), The capital health research and development of special to XLC, and the Chinese Returned Oversea Scientist Fund to XLC from Beijing Science and Technology.
Publisher Copyright:
© 2014 Chen et al.; licensee BioMed Central Ltd.
PY - 2014/8/19
Y1 - 2014/8/19
N2 - Background: Human 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 Results: In 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. Conclusions: These findings raise the potential that HERV sequences may more commonly underlie recombination of dosage sensitive regions associated with recurrent syndromes.
AB - Background: Human 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 Results: In 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. Conclusions: These findings raise the potential that HERV sequences may more commonly underlie recombination of dosage sensitive regions associated with recurrent syndromes.
KW - Branchio-oto-renal syndrome
KW - De novo 8q13.2-13.3 microdeletion
KW - Human endogenous retroviral (HERV) sequences
KW - Mesomelia-synostoses syndrome
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U2 - 10.1186/s12881-014-0090-9
DO - 10.1186/s12881-014-0090-9
M3 - Article
C2 - 25135225
AN - SCOPUS:84906827595
SN - 1755-8794
VL - 15
JO - BMC Medical Genetics
JF - BMC Medical Genetics
IS - 1
M1 - 90
ER -