Human chromosome 15q11-q14 regions of rearrangements contain clusters of LCR15 duplicons

Miguel Angel Pujana, Marga Nadal, Miriam Guitart, Lluís Armengol, Mònica Gratacòs, Xavier P. Estivill

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75 Citations (Scopus)

Abstract

Six breakpoint regions for rearrangements of human chromosome 15q11-q14 have been described. These rearrangements involve deletions found in approximately 70% of Prader-Willi or Angelman's syndrome patients (PWS, AS), duplications detected in some cases of autism, triplications and inverted duplications. HERC2-containing (HEct domain and RCc1 domain protein 2) segmental duplications or duplicons are present at two of these breakpoints (BP2 and BP3) mainly associated with deletions. We show here that clusters containing several copies of the human chromosome 15 low-copy repeat (LCR15) duplicon are located at each of the six described 15q11-q14 BPs. In addition, our results suggest the existence of breakpoints for large 15q11-q13 deletions in a proximal duplicon-containing clone. The study reveals that HERC2-containing duplicons (estimated on 50-400 kb) and LCR15 duplicons (∼15 kb on 15q11-q14) share the golgin-like protein (GLP) genomic sequence. Through the analysis of a human BAC library and public databases we have identified 36 LCR15 related sequences in the human genome, most (27) mapping to chromosome 15q and being transcribed. LCR15 analysis in non-human primates and age-sequence divergences support a recent origin of this family of segmental duplications through human speciation.

Original languageEnglish
Pages (from-to)26-35
Number of pages10
JournalEuropean Journal of Human Genetics
Volume10
Issue number1
DOIs
Publication statusPublished - 1 Jan 2002

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Keywords

  • 15q11-q14
  • Angelman syndrome
  • Deletion/duplication
  • Duplicons/segmental duplications
  • Inv dup(15)
  • Prader-Willi syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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