Identification of human specific gene duplications relative to other primates by array CGH and quantitative PCR.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Armengol, Gemma; Knuutila, Sakari; Lozano, Juan-José; Madrigal, Irene; Caballín, María-Rosa
Year of Publication: 2010
Journal: Genomics
Volume: 95
Issue: 4
Pagination: 203-9
Date Published: 2010 Apr
Publication Language: eng
ISSN: 1089-8646
Keywords: Animals, Comparative Genomic Hybridization, Evolution, Molecular, Gene Duplication, Genes, Duplicate, Gorilla gorilla, Humans, Oligonucleotide Array Sequence Analysis, Pan troglodytes, Polymerase Chain Reaction, Pongo, Primates, Species Specificity

In order to identify human lineage specific (HLS) copy number differences (CNDs) compared to other primates, we performed pair wise comparisons (human vs. chimpanzee, gorilla and orangutan) by using cDNA array comparative genomic hybridization (CGH). A set of 23 genes with HLS duplications were identified, as well as other lineage differences in gene copy number specific of chimpanzee, gorilla and orangutan. Each species has gained more copies of specific genes rather than losing gene copies. Eleven of the 23 genes have only been observed to have undergone HLS duplication in Fortna et al. (2004) and in the present study. Then, seven of these 11 genes were analyzed by quantitative PCR in chimpanzee, gorilla and orangutan, as well as in other six primate species (Hylobates lar, Cercopithecus aethiops, Papio hamadryas, Macaca mulatta, Lagothrix lagothricha, and Saimiri sciureus). Six genes confirmed array CGH data, and four of them appeared to have bona fide HLS duplications (ABCB10, E2F6, CDH12, and TDG genes). We propose that these gene duplications have a potential to contribute to specific human phenotypes.

DOI: 10.1016/j.ygeno.2010.02.003
Alternate Journal: Genomics