Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates Article Swipe
Flavia Angela Maria Maggiolini
,
Ludovica Mercuri
,
Francesca Antonacci
,
Fabio Anaclerio
,
Francesco Maria Calabrese
,
Nicola Lorusso
,
Alberto L’Abbate
,
Melanie Sorensen
,
Giuliana Giannuzzi
,
Evan E. Eichler
,
Claudia Rita Catacchio
,
Mario Ventura
·
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.3390/genes11020213
YOU?
·
· 2020
· Open Access
·
· DOI: https://doi.org/10.3390/genes11020213
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.
Related Topics
Concepts
Biology
Gene
Gene duplication
Genome
Gene family
Genetics
Tandem exon duplication
Segmental duplication
Copy-number variation
Molecular cytogenetics
Human genome
Computational biology
Chromosome
Karyotype
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/genes11020213
- https://www.mdpi.com/2073-4425/11/2/213/pdf?version=1583068339
- OA Status
- gold
- Cited By
- 10
- References
- 64
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3008947180
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
-
https://openalex.org/W3008947180Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3390/genes11020213Digital Object Identifier
- Title
-
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman PrimatesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2020Year of publication
- Publication date
-
2020-02-18Full publication date if available
- Authors
-
Flavia Angela Maria Maggiolini, Ludovica Mercuri, Francesca Antonacci, Fabio Anaclerio, Francesco Maria Calabrese, Nicola Lorusso, Alberto L’Abbate, Melanie Sorensen, Giuliana Giannuzzi, Evan E. Eichler, Claudia Rita Catacchio, Mario VenturaList of authors in order
- Landing page
-
https://doi.org/10.3390/genes11020213Publisher landing page
- PDF URL
-
https://www.mdpi.com/2073-4425/11/2/213/pdf?version=1583068339Direct link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://www.mdpi.com/2073-4425/11/2/213/pdf?version=1583068339Direct OA link when available
- Concepts
-
Biology, Gene, Gene duplication, Genome, Gene family, Genetics, Tandem exon duplication, Segmental duplication, Copy-number variation, Molecular cytogenetics, Human genome, Computational biology, Chromosome, KaryotypeTop concepts (fields/topics) attached by OpenAlex
- Cited by
-
10Total citation count in OpenAlex
- Citations by year (recent)
-
2024: 1, 2023: 2, 2022: 3, 2021: 3, 2020: 1Per-year citation counts (last 5 years)
- References (count)
-
64Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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