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
Related gene sets  
External links  
Filtered by similarity
Organism Homo sapiens
Contributed by Leona Saunders (MSigDB Team)
Source platform Human_RefSeq
Dataset references  
Download gene set format: grp | text | gmt | gmx | xml
Compute overlaps (show collections to investigate for overlap with this gene set)
Compendia expression profiles GTEx compendium
Human tissue compendium (Novartis)
Global Cancer Map (Broad Institute)
NCI-60 cell lines (National Cancer Institute)
Advanced query Further investigate these 13 genes
Gene families Categorize these 13 genes by gene family
Show members (show 13 members mapped to 13 genes)
Version history 3.0: First introduced

See MSigDB license terms here. Please note that certain gene sets have special access terms.