Dataset Information

Involucrin gene of tarsioids and other primates: alternatives in evolution of the segment of repeats.

ABSTRACT: The involucrin genes of the prosimian primates and of the anthropoid primates possess nonhomologous segments of repeats located at two different sites, P and M, within the coding region. The involucrin gene of the tarsioids alone contains repeats at both sites, for it derived repeats at site P from a common ancestor of tarsioids and prosimians and a repeat at site M from a later common ancestor of tarsioids and anthropoids. After their divergence from the tarsioids, the anthropoids added many more repeats to site M and excised the older segment of repeats from site P; in contrast, the tarsioids stopped adding repeats at site M, retained the earlier segment of repeats at site P, and enlarged it. In the revision of their involucrin genes, the two lineages followed alternative routes. The mechanisms by which the revisions took place have been subject to abrupt onset or termination.

SUBMITTER: Djian P

PROVIDER: S-EPMC51864 | biostudies-other | 1991 Jun

REPOSITORIES: biostudies-other

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Involucrin gene of tarsioids and other primates: alternatives in evolution of the segment of repeats.

Djian P P Green H H

Proceedings of the National Academy of Sciences of the United States of America 19910601 12

The involucrin genes of the prosimian primates and of the anthropoid primates possess nonhomologous segments of repeats located at two different sites, P and M, within the coding region. The involucrin gene of the tarsioids alone contains repeats at both sites, for it derived repeats at site P from a common ancestor of tarsioids and prosimians and a repeat at site M from a later common ancestor of tarsioids and anthropoids. After their divergence from the tarsioids, the anthropoids added many mo ...[more]

PMID: 1905021

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Project description:BACKGROUND: The autosomal dominant polycystic kidney disease (ADPKD) is mostly caused by mutations in the PKD1 (polycystic kidney disease 1) gene located in 16p13.3. Moreover, there are six pseudogenes of PKD1 that are located proximal to the master gene in 16p13.1. In contrast, no pseudogene could be detected in the mouse genome, only a single copy gene on chromosome 17. The question arises how the human situation originated phylogenetically. To address this question we applied comparative FISH-mapping of a human PKD1-containing genomic BAC clone and a PKD1-cDNA clone to chromosomes of a variety of primate species and the dog as a non-primate outgroup species. RESULTS: Comparative FISH with the PKD1-cDNA clone clearly shows that in all primate species studied distinct single signals map in subtelomeric chromosomal positions orthologous to the short arm of human chromosome 16 harbouring the master PKD1 gene. Only in human and African great apes, but not in orangutan, FISH with both BAC and cDNA clones reveals additional signal clusters located proximal of and clearly separated from the PKD1 master genes indicating the chromosomal position of PKD1 pseudogenes in 16p of these species, respectively. Indeed, this is in accordance with sequencing data in human, chimpanzee and orangutan. Apart from the master PKD1 gene, six pseudogenes are identified in both, human and chimpanzee, while only a single-copy gene is present in the whole-genome sequence of orangutan. The phylogenetic reconstruction of the PKD1-tree reveals that all human pseudogenes are closely related to the human PKD1 gene, and all chimpanzee pseudogenes are closely related to the chimpanzee PKD1 gene. However, our statistical analyses provide strong indication that gene conversion events may have occurred within the PKD1 family members of human and chimpanzee, respectively. CONCLUSION: PKD1 must have undergone amplification very recently in hominid evolution. Duplicative transposition of the PKD1 gene and further amplification and evolution of the PKD1 pseudogenes may have arisen in a common ancestor of Homo, Pan and Gorilla approximately 8 MYA. Reticulate evolutionary processes such as gene conversion and non-allelic homologous recombination (NAHR) may have resulted in concerted evolution of PKD1 family members in human and chimpanzee and, thus, simulate an independent evolution of the PKD1 pseudogenes from their master PKD1 genes in human and chimpanzee.

Dataset Information

Involucrin gene of tarsioids and other primates: alternatives in evolution of the segment of repeats.

Publications

Involucrin gene of tarsioids and other primates: alternatives in evolution of the segment of repeats.

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