Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabi. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in E...
| Autores: | , , , , , , , , , , , , , |
|---|---|
| Tipo de documento: | artigo |
| Data de publicação: | 2019 |
| País: | España |
| Recursos: | Servizo Galego de Saúde (SERGAS) |
| Repositório: | RUNA. Repositorio da Consellería de Sanidade e Sergas |
| OAI Identifier: | oai:runa.sergas.gal:20.500.11940/15761 |
| Acesso em linha: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509209/pdf/41598_2019_Article_43133.pdf https://www.ncbi.nlm.nih.gov/pubmed/31073126 http://hdl.handle.net/20.500.11940/15761 |
| Access Level: | Acceso aberto |
| Palavra-chave: | Humans Transglutaminases Ichthyosis Haplotypes Principal Component Analysis Tandem Repeat Sequences Genotype transglutaminasas genotipo secuencias repetidas en tándem análisis de componentes principales humanos haplotipos ictiosis FPGMX CHUS CHUVI IDIS |
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Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian populationEsperón Moldes, Uxía SaraivaPardo Seco, Jacobo JoséMontalván-Suárez, M.Fachal Vilar, LauraGinarte Val, Manuel JavierRodríguez Pazos, LauraGómez Carballa, AlbertoMoscoso, F.Ugalde-Noritz, N.Ordoñez Ugalde, AndrésTettamanti-Miranda, D.Ruiz, J. C.Salas Ellacuriaga, AntonioVega Gliemmo, AnaHumansTransglutaminasesIchthyosisHaplotypesPrincipal Component AnalysisTandem Repeat SequencesGenotypetransglutaminasasgenotiposecuencias repetidas en tándemanálisis de componentes principaleshumanoshaplotiposictiosisFPGMXCHUSCHUVIIDISAn unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabi. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabi. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabi could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region.2019info:eu-repo/semantics/articlehttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509209/pdf/41598_2019_Article_43133.pdfhttps://www.ncbi.nlm.nih.gov/pubmed/31073126http://hdl.handle.net/20.500.11940/15761reponame:RUNA. Repositorio da Consellería de Sanidade e Sergasinstname:Servizo Galego de Saúde (SERGAS)Ingléshttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:runa.sergas.gal:20.500.11940/157612026-06-12T08:40:47Z |
| dc.title.none.fl_str_mv |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| title |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| spellingShingle |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population Esperón Moldes, Uxía Saraiva Humans Transglutaminases Ichthyosis Haplotypes Principal Component Analysis Tandem Repeat Sequences Genotype transglutaminasas genotipo secuencias repetidas en tándem análisis de componentes principales humanos haplotipos ictiosis FPGMX CHUS CHUVI IDIS |
| title_short |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| title_full |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| title_fullStr |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| title_full_unstemmed |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| title_sort |
Biogeographical origin and timing of the founder ichthyosis TGM1 c.1187G > A mutation in an isolated Ecuadorian population |
| dc.creator.none.fl_str_mv |
Esperón Moldes, Uxía Saraiva Pardo Seco, Jacobo José Montalván-Suárez, M. Fachal Vilar, Laura Ginarte Val, Manuel Javier Rodríguez Pazos, Laura Gómez Carballa, Alberto Moscoso, F. Ugalde-Noritz, N. Ordoñez Ugalde, Andrés Tettamanti-Miranda, D. Ruiz, J. C. Salas Ellacuriaga, Antonio Vega Gliemmo, Ana |
| author |
Esperón Moldes, Uxía Saraiva |
| author_facet |
Esperón Moldes, Uxía Saraiva Pardo Seco, Jacobo José Montalván-Suárez, M. Fachal Vilar, Laura Ginarte Val, Manuel Javier Rodríguez Pazos, Laura Gómez Carballa, Alberto Moscoso, F. Ugalde-Noritz, N. Ordoñez Ugalde, Andrés Tettamanti-Miranda, D. Ruiz, J. C. Salas Ellacuriaga, Antonio Vega Gliemmo, Ana |
| author_role |
author |
| author2 |
Pardo Seco, Jacobo José Montalván-Suárez, M. Fachal Vilar, Laura Ginarte Val, Manuel Javier Rodríguez Pazos, Laura Gómez Carballa, Alberto Moscoso, F. Ugalde-Noritz, N. Ordoñez Ugalde, Andrés Tettamanti-Miranda, D. Ruiz, J. C. Salas Ellacuriaga, Antonio Vega Gliemmo, Ana |
| author2_role |
author author author author author author author author author author author author author |
| dc.subject.none.fl_str_mv |
Humans Transglutaminases Ichthyosis Haplotypes Principal Component Analysis Tandem Repeat Sequences Genotype transglutaminasas genotipo secuencias repetidas en tándem análisis de componentes principales humanos haplotipos ictiosis FPGMX CHUS CHUVI IDIS |
| topic |
Humans Transglutaminases Ichthyosis Haplotypes Principal Component Analysis Tandem Repeat Sequences Genotype transglutaminasas genotipo secuencias repetidas en tándem análisis de componentes principales humanos haplotipos ictiosis FPGMX CHUS CHUVI IDIS |
| description |
An unusually high frequency of the lamellar ichthyosis TGM1 mutation, c.1187G > A, has been observed in the Ecuadorian province of Manabi. Recently, the same mutation has been detected in a Galician patient (Northwest of Spain). By analyzing patterns of genetic variation around this mutation in Ecuadorian patients and population matched controls, we were able to estimate the age of c.1187G > A and the time to their most recent common ancestor (TMRCA) of c.1187G > A Ecuadorian carriers. While the estimated mutation age is 41 generations ago (~1,025 years ago [ya]), the TMRCA of Ecuadorian c.1187G > A carrier haplotypes dates to just 17 generations (~425 ya). Probabilistic-based inferences of local ancestry allowed us to infer a most likely European origin of a few (16% to 30%) Ecuadorian haplotypes carrying this mutation. In addition, inferences on demographic historical changes based on c.1187G > A Ecuadorian carrier haplotypes estimated an exponential population growth starting ~20 generations, compatible with a recent founder effect occurring in Manabi. Two main hypotheses can be considered for the origin of c.1187G > A: (i) the mutation could have arisen in Spain >1,000 ya (being Galicia the possible homeland) and then carried to Ecuador by Spaniards in colonial times ~400 ya, and (ii) two independent mutational events originated this mutation in Ecuador and Galicia. The geographic and cultural characteristics of Manabi could have favored a founder effect that explains the high prevalence of TGM1 c.1187G > A in this region. |
| publishDate |
2019 |
| dc.date.none.fl_str_mv |
2019 |
| dc.type.none.fl_str_mv |
info:eu-repo/semantics/article |
| format |
article |
| dc.identifier.none.fl_str_mv |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509209/pdf/41598_2019_Article_43133.pdf https://www.ncbi.nlm.nih.gov/pubmed/31073126 http://hdl.handle.net/20.500.11940/15761 |
| url |
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6509209/pdf/41598_2019_Article_43133.pdf https://www.ncbi.nlm.nih.gov/pubmed/31073126 http://hdl.handle.net/20.500.11940/15761 |
| dc.language.none.fl_str_mv |
Inglés |
| language_invalid_str_mv |
Inglés |
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http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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reponame:RUNA. Repositorio da Consellería de Sanidade e Sergas instname:Servizo Galego de Saúde (SERGAS) |
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Servizo Galego de Saúde (SERGAS) |
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RUNA. Repositorio da Consellería de Sanidade e Sergas |
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RUNA. Repositorio da Consellería de Sanidade e Sergas |
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