Detailed analysis of 15q11-q14 sequence corrects errors and gaps in the public access sequence to fully reveal large segmental duplications at breakpoints for Prader-Willi, Angelman, and inv dup(15) syndromes

Andrew J Makoff,Rachel H Flomen

doi:10.1186/gb-2007-8-6-r114

Abstract

A detailed segmental map of the 15q11-q14 region of the human genome reveals two pairs of large direct repeats in regions associated with Prader-Willi and Angelman syndromes and other repeats that may increase susceptibility to other disorders.

Highlights

Chromosome 15 contains many segmental duplications, including some at 15q11q13 that appear to be responsible for the deletions that cause Prader-Willi and Angelman syndromes and for other genomic disorders
The proximal end of chromosome 15 contains many segmental duplications and is especially susceptible to genomic rearrangements and genomic disorders
R114.2 Genome Biology 2007, Volume 8, Issue 6, Article R114 Makoff and Flomen http://genomebiology.com/2007/8/6/R114 and Angelman syndrome (AS) syndromes, of which about 75% are caused by interstitial deletions in 15q11-13

Summary

Introduction

Chromosome 15 contains many segmental duplications, including some at 15q11q13 that appear to be responsible for the deletions that cause Prader-Willi and Angelman syndromes and for other genomic disorders. Deletions on the paternal chromosome result in PWS, whereas deletions on the maternal chromosome cause AS [1] These deletions occur with an approximate frequency of 1 per 10,000 live births, and they generally fall into two size classes with breakpoints (BPs) within three discrete regions (BP1 to BP3) [2]. Both classes share the same distal breakpoint (BP3), at one end of deletions that extend through the PWS/AS critical region either to BP2 (class II) or to the more proximal BP1 (class I)

Methods

Results

Discussion

Conclusion