For several decades, much attention has been placed
on gene duplication as a source of new gene functions.
Not exact matches
Based largely
on studies of snakes, spiders and other species dangerous to our own, it is thought that most venom
genes arise through the mechanism of
gene duplication followed by mutation and repurposing (which scientists refer to as neofunctionalization).
On January 9, a team, led by researchers at Massachusetts General Hospital (MGH) and Children's Hospital Boston, announced that it had found copy number variations — deletions of
duplications of segments of genetic code that alter the number of copies of a
gene a person carries — in 12 of 1,400 autism sufferers it was studying.
Using this analysis, the researchers identified deletions in the coding region of the
gene (in exons E2 to E9, E5 to E9, E8, E10, E14, and E1 to E15),
duplications (E11 to E12)
on two chromosomes, and a nonsense mutation.
To compensate for the
duplication,
genes are inactivated
on one chromosome or the other in the early development of the embryo.
This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate
genes using genetically - engineered mutant model organisms; (c) Studies focused
on epistatis and
gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in
genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions,
duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence variation.
Nearly three - quarters of the 1,286 animal - specific
gene families arose by
gene duplication on the metazoan stem (Supplementary Note 9).
Altogether, the data presented in this study reinforces the evolutionary importance of the two rounds of whole genome
duplication that occurred in the vertebrate ancestor and sheds light
on the differential behaviour of
gene duplicates that arose in these events.