Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates.

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Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_8D4E70C1D0D2
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates.
Journal
Genes
Author(s)
Maggiolini FAM, Mercuri L., Antonacci F., Anaclerio F., Calabrese F.M., Lorusso N., L'Abbate A., Sorensen M., Giannuzzi G., Eichler E.E., Catacchio C.R., Ventura M.
ISSN
2073-4425 (Electronic)
ISSN-L
2073-4425
Publication state
Published
Issued date
18/02/2020
Peer-reviewed
Oui
Volume
11
Number
2
Pages
213
Language
english
Notes
Publication types: Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
Publication Status: epublish
Abstract
POTE (prostate, ovary, testis, and placenta expressed) genes belong to a primate-specific gene family expressed in prostate, ovary, and testis as well as in several cancers including breast, prostate, and lung cancers. Due to their tumor-specific expression, POTEs are potential oncogenes, therapeutic targets, and biomarkers for these malignancies. This gene family maps within human and primate segmental duplications with a copy number ranging from two to 14 in different species. Due to the high sequence identity among the gene copies, specific efforts are needed to assemble these loci in order to correctly define the organization and evolution of the gene family. Using single-molecule, real-time (SMRT) sequencing, in silico analyses, and molecular cytogenetics, we characterized the structure, copy number, and chromosomal distribution of the POTE genes, as well as their expression in normal and disease tissues, and provided a comparative analysis of the POTE organization and gene structure in primate genomes. We were able, for the first time, to de novo sequence and assemble a POTE tandem duplication in marmoset that is misassembled and collapsed in the reference genome, thus revealing the presence of a second POTE copy. Taken together, our findings provide comprehensive insights into the evolutionary dynamics of the primate-specific POTE gene family, involving gene duplications, deletions, and long interspersed nuclear element (LINE) transpositions to explain the actual repertoire of these genes in human and primate genomes.
Keywords
Animals, Chromosome Mapping, Computer Simulation, Evolution, Molecular, Female, Gene Expression Profiling, Gene Expression Regulation, Humans, Male, Multigene Family, Ovary/chemistry, Placenta/chemistry, Pregnancy, Primates/genetics, Prostate/chemistry, Single Molecule Imaging, Testis/chemistry, Tissue Distribution, centromeres, evolution, gene family, primates
Pubmed
Web of science
Open Access
Yes
Create date
27/02/2020 15:40
Last modification date
08/08/2024 6:36
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