Villaescusa, Patricia ORCID: 0000-0001-6010-0343, Seidel, Maria, Nothnagel, Michael ORCID: 0000-0001-8305-7114, Pinotti, Thomaz, Gonzalez-Andrade, Fabricio, Alvarez-Gila, Oscar, de Pancorbo, Marian M. and Roewer, Lutz ORCID: 0000-0001-9383-4941 (2021). A Y-chromosomal survey of Ecuador 's multi-ethnic population reveals new insights into the tri-partite population structure and supports an early Holocene age of the rare Native American founder lineage C3-MPB373. Forensic Sci. Int.-Genet., 51. CLARE: ELSEVIER IRELAND LTD. ISSN 1878-0326

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Abstract

Ecuador is a multiethnic and pluricultural country with a complex history defined by migration and admixture processes. The present study aims to increase our knowledge on the Ecuadorian Native Amerindian groups and the unique South American Y-chromosome haplogroup C3-MPB373 through the analysis of up to 23 Y-chromosome STRs (Y-STRs) and several Y-SNPs in a sample of 527 Ecuadorians from 7 distinct populations and geographic areas, including Kichwa and non-Kichwa Native Amerindians, Mestizos and Afro-Ecuadorians. Our results reveal the presence of C3-MPB373 both in the Amazonian lowland Kichwa with frequencies up to 28 % and, for the first time, in notable proportions in Kichwa populations from the Ecuadorian highlands. The substantially higher frequencies of C3-MPB373 in the Amazonian lowlands found in Kichwa and Waorani individuals suggest a founder effect in that area. Notably, estimates for the time to the most recent common ancestor (TMRCA) in the range of 7.2-9.0 kya point to an ancient origin of the haplogroup and suggest an early Holocene expansion of C3-MPB373 into South America. Finally, the pairwise genetic distances (R-ST) separate the Kichwa Salasaka from all the other Native Amerindian and Ecuadorian groups, indicating a so far hidden diversity among the Kichwa-speaking populations and suggesting a more southern origin of this population. In sum, our study provides a more in-depth knowledge of the male genetic structure of the multiethnic Ecuadorian population, as well as a valuable reference dataset for forensic use.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Villaescusa, PatriciaUNSPECIFIEDorcid.org/0000-0001-6010-0343UNSPECIFIED
Seidel, MariaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nothnagel, MichaelUNSPECIFIEDorcid.org/0000-0001-8305-7114UNSPECIFIED
Pinotti, ThomazUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gonzalez-Andrade, FabricioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Alvarez-Gila, OscarUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
de Pancorbo, Marian M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Roewer, LutzUNSPECIFIEDorcid.org/0000-0001-9383-4941UNSPECIFIED
URN: urn:nbn:de:hbz:38-596591
DOI: 10.1016/j.fsigen.2020.102427
Journal or Publication Title: Forensic Sci. Int.-Genet.
Volume: 51
Date: 2021
Publisher: ELSEVIER IRELAND LTD
Place of Publication: CLARE
ISSN: 1878-0326
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
SUB-SAHARAN AFRICA; AZFC REGION; DNA; HISTORY; SNP; DUPLICATION; INFERENCES; PHYLOGENY; DIVERSITY; DIFFUSIONMultiple languages
Genetics & Heredity; Medicine, LegalMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/59659

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