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

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Title: The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
Authors: Castro, L.P.1 (AUTHOR), Sahbatou, M.2 (AUTHOR), Kehdy, F.S.G.3 (AUTHOR), Farias, A.A.4,5 (AUTHOR), Yurchenko, A.A.6 (AUTHOR), de Souza, T.A.1 (AUTHOR), Rosa, R.C.A.7 (AUTHOR), Mendes-Junior, C.T.8 (AUTHOR), Borda, V.9 (AUTHOR), Munford, V.1 (AUTHOR), Zanardo, É.A.10 (AUTHOR), Chehimi, S.N.10 (AUTHOR), Kulikowski, L.D.10 (AUTHOR), Aquino, M.M.11 (AUTHOR), Leal, T.P.11 (AUTHOR), Tarazona-Santos, E.11 (AUTHOR), Chaibub, S.C.12 (AUTHOR), Gener, B.13,14 (AUTHOR), Calmels, N.15 (AUTHOR), Laugel, V.15 (AUTHOR)
Source: Mutation Research - Genetic Toxicology & Environmental Mutagenesis. Apr2020, Vol. 852, pN.PAG-N.PAG. 1p.
Subject Terms: Xeroderma pigmentosum, Genetic distance, Genetic mutation, Consanguinity
Geographic Terms: Goiás (Brazil), Brazil
Abstract: • Identifying a common genomic segment between Brazilian and Spanish XP patients. • The POLH intron 6 mutation in Brazil is originally from Europe. • The founder effect for XP families in Brazil is relatively recent: 200–300 years. • XP patients from Araras are genetically close to one specific family from Spain. In central Brazil, in the municipality of Faina (state of Goiás), 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 Goiás, 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 Goiás state (BR). Patients from Goiás 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. [ABSTRACT FROM AUTHOR]
Copyright of Mutation Research - Genetic Toxicology & Environmental Mutagenesis is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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  Data: The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
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  Data: <searchLink fieldCode="AR" term="%22Castro%2C+L%2EP%2E%22">Castro, L.P.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sahbatou%2C+M%2E%22">Sahbatou, M.</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kehdy%2C+F%2ES%2EG%2E%22">Kehdy, F.S.G.</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Farias%2C+A%2EA%2E%22">Farias, A.A.</searchLink><relatesTo>4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Yurchenko%2C+A%2EA%2E%22">Yurchenko, A.A.</searchLink><relatesTo>6</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22de+Souza%2C+T%2EA%2E%22">de Souza, T.A.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rosa%2C+R%2EC%2EA%2E%22">Rosa, R.C.A.</searchLink><relatesTo>7</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Mendes-Junior%2C+C%2ET%2E%22">Mendes-Junior, C.T.</searchLink><relatesTo>8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Borda%2C+V%2E%22">Borda, V.</searchLink><relatesTo>9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Munford%2C+V%2E%22">Munford, V.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Zanardo%2C+É%2EA%2E%22">Zanardo, É.A.</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chehimi%2C+S%2EN%2E%22">Chehimi, S.N.</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Kulikowski%2C+L%2ED%2E%22">Kulikowski, L.D.</searchLink><relatesTo>10</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Aquino%2C+M%2EM%2E%22">Aquino, M.M.</searchLink><relatesTo>11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Leal%2C+T%2EP%2E%22">Leal, T.P.</searchLink><relatesTo>11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tarazona-Santos%2C+E%2E%22">Tarazona-Santos, E.</searchLink><relatesTo>11</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Chaibub%2C+S%2EC%2E%22">Chaibub, S.C.</searchLink><relatesTo>12</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Gener%2C+B%2E%22">Gener, B.</searchLink><relatesTo>13,14</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Calmels%2C+N%2E%22">Calmels, N.</searchLink><relatesTo>15</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Laugel%2C+V%2E%22">Laugel, V.</searchLink><relatesTo>15</relatesTo> (AUTHOR)
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  Data: <searchLink fieldCode="JN" term="%22Mutation+Research+-+Genetic+Toxicology+%26+Environmental+Mutagenesis%22">Mutation Research - Genetic Toxicology & Environmental Mutagenesis</searchLink>. Apr2020, Vol. 852, pN.PAG-N.PAG. 1p.
– Name: Subject
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  Data: <searchLink fieldCode="DE" term="%22Xeroderma+pigmentosum%22">Xeroderma pigmentosum</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+distance%22">Genetic distance</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Consanguinity%22">Consanguinity</searchLink>
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  Label: Geographic Terms
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  Data: <searchLink fieldCode="DE" term="%22Goiás+%28Brazil%29%22">Goiás (Brazil)</searchLink><br /><searchLink fieldCode="DE" term="%22Brazil%22">Brazil</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: • Identifying a common genomic segment between Brazilian and Spanish XP patients. • The POLH intron 6 mutation in Brazil is originally from Europe. • The founder effect for XP families in Brazil is relatively recent: 200–300 years. • XP patients from Araras are genetically close to one specific family from Spain. In central Brazil, in the municipality of Faina (state of Goiás), 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 Goiás, 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 Goiás state (BR). Patients from Goiás 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. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
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  Data: <i>Copyright of Mutation Research - Genetic Toxicology & Environmental Mutagenesis is the property of Elsevier B.V. and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=8gh&AN=142578333
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