Gene Duplication: Study of 270 Individuals in HapMap Collection

[selfAdjoint]

Fascinating new study of the 270 individuals on whom the international HapMap is based:

http://www.nature.com/nature/journal/v444/n7118/abs/nature05329.html

Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.

(From Nature, Via Gene Expression)

Also see this newspaper story about the duplicated gene implications:

http://news.independent.co.uk/world/science_technology/article2007490.ece[/URL]

 

[Rade]

Excellent post selfAdjoint. So, of the ~ 30,000 genes we each have, ~ 3,000 come in multiple copies (e.g., more than the 2 from each parent) and the number and type of these copies may be adaptive. If we consider the "selfish gene" hypothesis of Dawkins, we find a good match with theory and experiment--would appear Dawkins is correct, the evolutionary play has genes as actors, humans (and all life containers) are but part of the stage.

 

[selfAdjoint]

And when you recall that there are all these genomic proteins with gene-minding functions, which are under independent selective ontrol, not to mention the non-coding, probably regulatory areas of the genome which now appear to have been selected strongly in human versus chimp evolution, and it becomes obvious that we're not in Mendel-land anymore.