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The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil

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Autor(es):
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Castro, L. P. [1] ; Sahbatou, M. [2] ; Kehdy, F. S. G. [3] ; Farias, A. A. [4, 5] ; Yurchenko, A. A. [6] ; de Souza, T. A. [1] ; Rosa, R. C. A. [7] ; Mendes-Junior, C. T. [8] ; Borda, V [9] ; Munford, V [1] ; Zanardo, E. A. [10] ; Chehimi, S. N. [10] ; Kulikowski, L. D. [10] ; Aquino, M. M. [11] ; Leal, T. P. [11] ; Tarazona-Santos, E. [11] ; Chaibub, S. C. [12] ; Gener, B. [13, 14] ; Calmels, N. [15] ; Laugel, V [15] ; Sarasin, A. [16] ; Menck, C. F. M. [1]
Número total de Autores: 22
Afiliação do(s) autor(es):
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[1] Univ Sao Paulo, Inst Biomed Sci, Dept Microbiol, Sao Paulo - Brazil
[2] Fdn Jean Dausset CEPH, Paris - France
[3] Fundacao Oswaldo Cruz, Oswaldo Cruz Inst, Leprosy Lab, Rio De Janeiro - Brazil
[4] Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo - Brazil
[5] Univ Sao Paulo, Human Genome & Stem Cell Ctr, Inst Biosci, Sao Paulo - Brazil
[6] Univ Paris Saclay, Inserm U981, Gustave Roussy Canc Campus, Villejuif - France
[7] Univ Sao Paulo, Ribeirao Preto Med Sch, Dept Genet, Ribeirao Preto - Brazil
[8] Univ Sao Paulo, Fac Philosophy Sci & Letters, Dept Chem, Forens & Genom Res Lab, Ribeirao Preto - Brazil
[9] Natl Lab Sci Computat LNCC, Petropolis, RJ - Brazil
[10] Univ Sao Paulo FMUSP, Sch Med, Dept Pathol, Cytogen Lab, Sao Paulo - Brazil
[11] Fed Univ Minas Gerais UFMG, Inst Biol Sci, Dept Genet Ecol & Evolut, Belo Horizonte, MG - Brazil
[12] Gen Hosp Goiania, Goiania, Go - Brazil
[13] Cruces Univ Hosp, Osakidetza Basque Hlth Serv, Dept Genet, Bizkaia - Spain
[14] Biocruces Bizkaia Hlth Res Inst, Bizkaia - Spain
[15] Inst Med Genet Alsace IGMA, Lab Med Genet, Strasbourg - France
[16] Univ Paris Saclay, Gustave Roussy Inst, UMR8200 CNRS, Villejuif - France
Número total de Afiliações: 16
Tipo de documento: Artigo Científico
Fonte: MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS; v. 852, n. SI APR 2020.
Citações Web of Science: 0
Resumo

In central Brazil, in the municipality of Faina (state of Goias), the small and isolated village of Araras comprises a genetic cluster of xeroderma pigmentosum (XP) patients. The high level of consanguinity and the geographical isolation gave rise to a high frequency of XP patients. Recently, two founder events were identified affecting that community, with two independent mutations at the POLH gene, c.764 + 1 G > A (intron 6) and c.907 C > T; p.Arg303{*} (exon 8). These deleterious mutations lead to the xeroderma pigmentosum variant syndrome (XP-V). Previous reports identified both mutations in other countries: the intron 6 mutation in six patients (four families) from Northern Spain (Basque Country and Cantabria) and the exon 8 mutation in two patients from different families in Europe, one of them from Kosovo. In order to investigate the ancestry of the XP patients and the age for these mutations at Araras, we generated genotyping information for 22 XP-V patients from Brazil (16), Spain (6) and Kosovo (1). The local genomic ancestry and the shared haplotype segments among the patients showed that the intron 6 mutation at Araras is associated with an Iberian genetic legacy. All patients from Goias, homozygotes for intron 6 mutation, share with the Spanish patients identical-by-descent (IBD) genomic segments comprising the mutation. The entrance date for the Iberian haplotype at the village was calculated to be approximately 200 years old. This result is in agreement with the historical arrival of Iberian individuals at the Goias state (BR). Patients from Goias and the three families from Spain share 1.8 cM (family 14), 1.7 cM (family 15), and a more significant segment of 4.7 cM within family 13. On the other hand, the patients carrying the exon 8 mutation do not share any specific genetic segment, indicating an old genetic distance between them or even no common ancestry. (AU)

Processo FAPESP: 14/15982-6 - Consequências de deficiências de reparo de lesões no genoma
Beneficiário:Carlos Frederico Martins Menck
Linha de fomento: Auxílio à Pesquisa - Temático
Processo FAPESP: 13/08028-1 - CEGH-CEL - Centro de Estudos do Genoma Humano e de Células-Tronco
Beneficiário:Mayana Zatz
Linha de fomento: Auxílio à Pesquisa - Centros de Pesquisa, Inovação e Difusão - CEPIDs