The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).

<h4>Background</h4>The human apolipoprotein E (APOE) gene is polymorphic, with three primary alleles (E2, E3, E4) that differ at two key non-synonymous sites. These alleles are functionally different in how they bind to lipoproteins, and this genetic variation is associated with phenotyp...

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Autores principales:	Annick M McIntosh, Calvin Bennett, Dara Dickson, Stephanie F Anestis, David P Watts, Timothy H Webster, M Babette Fontenot, Brenda J Bradley
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f3ecf7eaf8f44422b9e3db33e2b39856
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spelling	oai:doaj.org-article:f3ecf7eaf8f44422b9e3db33e2b398562021-11-18T08:11:11ZThe apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).1932-620310.1371/journal.pone.0047760https://doaj.org/article/f3ecf7eaf8f44422b9e3db33e2b398562012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23112842/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>The human apolipoprotein E (APOE) gene is polymorphic, with three primary alleles (E2, E3, E4) that differ at two key non-synonymous sites. These alleles are functionally different in how they bind to lipoproteins, and this genetic variation is associated with phenotypic variation for several medical traits, including cholesterol levels, cardiovascular health, Alzheimer's disease risk, and longevity. The relative frequencies of these alleles vary across human populations, and the evolution and maintenance of this diversity is much debated. Previous studies comparing human and chimpanzee APOE sequences found that the chimpanzee sequence is most similar to the human E4 allele, although the resulting chimpanzee protein might function like the protein coded for by the human E3 allele. However, these studies have used sequence data from a single chimpanzee and do not consider whether chimpanzees, like humans, show intra-specific and subspecific variation at this locus.<h4>Methodology and principal findings</h4>To examine potential intraspecific variation, we sequenced the APOE gene of 32 chimpanzees. This sample included 20 captive individuals representing the western subspecies (P. troglodytes verus) and 12 wild individuals representing the eastern subspecies (P. t. schweinfurthii). Variation in our resulting sequences was limited to one non-coding, intronic SNP, which showed fixed differences between the two subspecies. We also compared APOE sequences for all available ape genera and fossil hominins. The bonobo APOE protein is identical to that of the chimpanzee, and the Denisovan APOE exhibits all four human-specific, non-synonymous changes and appears functionally similar to the human E4 allele.<h4>Conclusions</h4>We found no coding variation within and between chimpanzee populations, suggesting that the maintenance of functionally diverse APOE polymorphisms is a unique feature of human evolution.Annick M McIntoshCalvin BennettDara DicksonStephanie F AnestisDavid P WattsTimothy H WebsterM Babette FontenotBrenda J BradleyPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 10, p e47760 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Annick M McIntosh Calvin Bennett Dara Dickson Stephanie F Anestis David P Watts Timothy H Webster M Babette Fontenot Brenda J Bradley The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).
description	<h4>Background</h4>The human apolipoprotein E (APOE) gene is polymorphic, with three primary alleles (E2, E3, E4) that differ at two key non-synonymous sites. These alleles are functionally different in how they bind to lipoproteins, and this genetic variation is associated with phenotypic variation for several medical traits, including cholesterol levels, cardiovascular health, Alzheimer's disease risk, and longevity. The relative frequencies of these alleles vary across human populations, and the evolution and maintenance of this diversity is much debated. Previous studies comparing human and chimpanzee APOE sequences found that the chimpanzee sequence is most similar to the human E4 allele, although the resulting chimpanzee protein might function like the protein coded for by the human E3 allele. However, these studies have used sequence data from a single chimpanzee and do not consider whether chimpanzees, like humans, show intra-specific and subspecific variation at this locus.<h4>Methodology and principal findings</h4>To examine potential intraspecific variation, we sequenced the APOE gene of 32 chimpanzees. This sample included 20 captive individuals representing the western subspecies (P. troglodytes verus) and 12 wild individuals representing the eastern subspecies (P. t. schweinfurthii). Variation in our resulting sequences was limited to one non-coding, intronic SNP, which showed fixed differences between the two subspecies. We also compared APOE sequences for all available ape genera and fossil hominins. The bonobo APOE protein is identical to that of the chimpanzee, and the Denisovan APOE exhibits all four human-specific, non-synonymous changes and appears functionally similar to the human E4 allele.<h4>Conclusions</h4>We found no coding variation within and between chimpanzee populations, suggesting that the maintenance of functionally diverse APOE polymorphisms is a unique feature of human evolution.
format	article
author	Annick M McIntosh Calvin Bennett Dara Dickson Stephanie F Anestis David P Watts Timothy H Webster M Babette Fontenot Brenda J Bradley
author_facet	Annick M McIntosh Calvin Bennett Dara Dickson Stephanie F Anestis David P Watts Timothy H Webster M Babette Fontenot Brenda J Bradley
author_sort	Annick M McIntosh
title	The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).
title_short	The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).
title_full	The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).
title_fullStr	The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).
title_full_unstemmed	The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).
title_sort	apolipoprotein e (apoe) gene appears functionally monomorphic in chimpanzees (pan troglodytes).
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/f3ecf7eaf8f44422b9e3db33e2b39856
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The apolipoprotein E (APOE) gene appears functionally monomorphic in chimpanzees (Pan troglodytes).

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