More or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development

摘要

The wealth of data arising from high-throughput global analysis of the human genome sequence has uncovered a large number of interspersed and tandem segmental duplications of the human genome. Indications are that approx 5% of the human genome has been duplicated within the past 40 million years and this provides us with a snapshot of ongoing genome evolution.Segmental duplications play an important role in disease because they create genome instability that can lead to genomic rearrangements in important regions with consequential dosage imbalance or mis-regulationof gene(s) necessary for normal human development. Abnormal gene dosage is involved in the aetiology of many genetic disorders such as Charcot-Marie-Tooth type 1A (CMT1A, caused by PMP22 gene duplication) or Williams-Beuren Syndrome (WBS, caused by a contiguous gene microdeletion) which is the focus of this commentary.