On the Structural Plasticity of the Human Genome: Chromosomal Inversions Revisited

• Type: Article in International Scientific Journal
• Date: 2012

Authors

Joao M Alves (Author) Other; Alexandra M Lopes (Author) Other; Lounes Chikhi (Author) Other; Antonio Amorim (Author) FCUP

Journal

Title: Current Genomics

Vol. 13

Pages: 623-632

ISSN: 1389-2029

Publisher: Bentham Science

Indexing

ISI Web of Knowledge - 16 Citations

Scopus - 17 Citations

Scientific classification

FOS: Natural sciences > Biological sciences

Other information

Authenticus ID: P-002-356

DOI: 10.2174/138920212803759703

Abstract (EN): With the aid of novel and powerful molecular biology techniques, recent years have witnessed a dramatic increase in the number of studies reporting the involvement of complex structural variants in several genomic disorders. In fact, with the discovery of Copy Number Variants (CNVs) and other forms of unbalanced structural variation, much attention has been directed to the detection and characterization of such rearrangements, as well as the identification of the mechanisms involved in their formation. However, it has long been appreciated that chromosomes can undergo other forms of structural changes - balanced rearrangements - that do not involve quantitative variation of genetic material. Indeed, a particular subtype of balanced rearrangement - inversions - was recently found to be far more common than had been predicted from traditional cytogenetics. Chromosomal inversions alter the orientation of a specific genomic sequence and, unless involving breaks in coding or regulatory regions (and, disregarding complex trans effects, in their close vicinity), appear to be phenotypically silent. Such a surprising finding, which is difficult to reconcile with the classical interpretation of inversions as a mechanism causing subfertility (and ultimately reproductive isolation), motivated a new series of theoretical and empirical studies dedicated to understand their role in human genome evolution and to explore their possible association to complex genetic disorders. With this review, we attempt to describe the latest methodological improvements to inversions detection at a genome wide level, while exploring some of the possible implications of inversion rearrangements on the evolution of the human genome.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 10