Gene Set: JIANG_CORE_DUPLICON_GENES

Standard name JIANG_CORE_DUPLICON_GENES
Systematic name M9416
Brief description Genes mapped to core duplicons - elements shared by a majority of segmental duplication blocks.
Full description or abstract Human segmental duplications are hotspots for nonallelic homologous recombination leading to genomic disorders, copy-number polymorphisms and gene and transcript innovations. The complex structure and history of these regions have precluded a global evolutionary analysis. Combining a modified A-Bruijn graph algorithm with comparative genome sequence data, we identify the origin of 4,692 ancestral duplication loci and use these to cluster 437 complex duplication blocks into 24 distinct groups. The sequence-divergence data between ancestral-derivative pairs and a comparison with the chimpanzee and macaque genome support a 'punctuated' model of evolution. Our analysis reveals that human segmental duplications are frequently organized around 'core' duplicons, which are enriched for transcripts and, in some cases, encode primate-specific genes undergoing positive selection. We hypothesize that the rapid expansion and fixation of some intrachromosomal segmental duplications during great-ape evolution has been due to the selective advantage conferred by these genes and transcripts embedded within these core duplications.
Collection C2: curated gene sets
      CGP: chemical and genetic perturbations
Source publication Pubmed 17922013   Authors: Jiang Z,Tang H,Ventura M,Cardone MF,Marques-Bonet T,She X,Pevzner PA,Eichler EE
Exact source Table 5S
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Organism Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
Source platform Human_RefSeq
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Version history 3.0: First introduced

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