title: Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks.
abstract: 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.
  
  
  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.
authors.forename: Xiaoli
authors.initials: X
authors.lastname: Chen
authors.forename: Jun
authors.initials: J
authors.lastname: Wang
authors.forename: Elyse
authors.initials: E
authors.lastname: Mitchell
authors.forename: Jin
authors.initials: J
authors.lastname: Guo
authors.forename: Liwen
authors.initials: L
authors.lastname: Wang
authors.forename: Yu
authors.initials: Y
authors.lastname: Zhang
authors.forename: Jennelle C
authors.initials: JC
authors.lastname: Hodge
authors.forename: Yiping
authors.initials: Y
authors.lastname: Shen
mesh_terms: D001483:Base Sequence; D019280:Branchio-Oto-Renal Syndrome / Q000235:genetics* / Q000473:pathology; D002874:Chromosome Mapping; D002898:Chromosomes, Human, Pair 8; D055028:Comparative Genomic Hybridization; D020077:Endogenous Retroviruses / Q000737:chemistry / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D034381:Hearing Loss / Q000235:genetics / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics; D027361:Organic Anion Transporters / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D016415:Sequence Alignment; D015238:Sulfotransferases / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D027361:Organic Anion Transporters; C551029:SLCO5A1 protein, human; C470791:SULF1 protein, human; D015238:Sulfotransferases; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases