Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

Abstract The mutation age and local ancestry of chromosomal segments harbouring mutations associated with autosomal recessive (AR) disorders in Brazilian admixed populations remain unknown; additionally, inbreeding levels for these affected individuals continue to be estimated based on genealogical...

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Main Authors:	Allysson Allan de Farias, Kelly Nunes, Renan Barbosa Lemes, Ronald Moura, Gustavo Ribeiro Fernandes, Uirá Souto Melo, Mayana Zatz, Fernando Kok, Silvana Santos
Format:	article
Language:	EN
Published:	Nature Portfolio 2018
Subjects:	Autosomal Recessive (AR) Most Recent Common Ancestor (MRCA) Local Ancestry Inference (LAI) Locus-specific Ancestry Global Ancestry Medicine R Science Q
Online Access:	https://doaj.org/article/d723e7e4b3614cfe81131cb8fa90adec
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spelling	oai:doaj.org-article:d723e7e4b3614cfe81131cb8fa90adec2021-12-02T15:07:57ZOrigin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations10.1038/s41598-018-35022-12045-2322https://doaj.org/article/d723e7e4b3614cfe81131cb8fa90adec2018-11-01T00:00:00Zhttps://doi.org/10.1038/s41598-018-35022-1https://doaj.org/toc/2045-2322Abstract The mutation age and local ancestry of chromosomal segments harbouring mutations associated with autosomal recessive (AR) disorders in Brazilian admixed populations remain unknown; additionally, inbreeding levels for these affected individuals continue to be estimated based on genealogical information. Here, we calculated inbreeding levels using a runs of homozygosity approach, mutation age and local ancestry to infer the origin of each chromosomal segments containing disorder-causing mutations in KLC2, IMPA1, MED25 and WNT7A. Genotyped data were generated from 18 patients affected by AR diseases and combined to the 1000 genome project (1KGP) and Simons genome diversity project (SGDP) databases to infer local ancestry. We found a major European contribution for mutated haplotypes with recent mutation age and inbreeding values found only in Native American and Middle East individuals. These results contribute to identifying the origin of and to understanding how these diseases are maintained and spread in Brazilian and world populations.Allysson Allan de FariasKelly NunesRenan Barbosa LemesRonald MouraGustavo Ribeiro FernandesUirá Souto MeloMayana ZatzFernando KokSilvana SantosNature PortfolioarticleAutosomal Recessive (AR)Most Recent Common Ancestor (MRCA)Local Ancestry Inference (LAI)Locus-specific AncestryGlobal AncestryMedicineRScienceQENScientific Reports, Vol 8, Iss 1, Pp 1-8 (2018)
institution	DOAJ
collection	DOAJ
language	EN
topic	Autosomal Recessive (AR) Most Recent Common Ancestor (MRCA) Local Ancestry Inference (LAI) Locus-specific Ancestry Global Ancestry Medicine R Science Q
spellingShingle	Autosomal Recessive (AR) Most Recent Common Ancestor (MRCA) Local Ancestry Inference (LAI) Locus-specific Ancestry Global Ancestry Medicine R Science Q Allysson Allan de Farias Kelly Nunes Renan Barbosa Lemes Ronald Moura Gustavo Ribeiro Fernandes Uirá Souto Melo Mayana Zatz Fernando Kok Silvana Santos Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
description	Abstract The mutation age and local ancestry of chromosomal segments harbouring mutations associated with autosomal recessive (AR) disorders in Brazilian admixed populations remain unknown; additionally, inbreeding levels for these affected individuals continue to be estimated based on genealogical information. Here, we calculated inbreeding levels using a runs of homozygosity approach, mutation age and local ancestry to infer the origin of each chromosomal segments containing disorder-causing mutations in KLC2, IMPA1, MED25 and WNT7A. Genotyped data were generated from 18 patients affected by AR diseases and combined to the 1000 genome project (1KGP) and Simons genome diversity project (SGDP) databases to infer local ancestry. We found a major European contribution for mutated haplotypes with recent mutation age and inbreeding values found only in Native American and Middle East individuals. These results contribute to identifying the origin of and to understanding how these diseases are maintained and spread in Brazilian and world populations.
format	article
author	Allysson Allan de Farias Kelly Nunes Renan Barbosa Lemes Ronald Moura Gustavo Ribeiro Fernandes Uirá Souto Melo Mayana Zatz Fernando Kok Silvana Santos
author_facet	Allysson Allan de Farias Kelly Nunes Renan Barbosa Lemes Ronald Moura Gustavo Ribeiro Fernandes Uirá Souto Melo Mayana Zatz Fernando Kok Silvana Santos
author_sort	Allysson Allan de Farias
title	Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
title_short	Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
title_full	Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
title_fullStr	Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
title_full_unstemmed	Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations
title_sort	origin and age of the causative mutations in klc2, impa1, med25 and wnt7a unravelled through brazilian admixed populations
publisher	Nature Portfolio
publishDate	2018
url	https://doaj.org/article/d723e7e4b3614cfe81131cb8fa90adec
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Origin and age of the causative mutations in KLC2, IMPA1, MED25 and WNT7A unravelled through Brazilian admixed populations

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