KIR2DL4 genetic diversity in a Brazilian population sample: implications for transcription regulation and protein diversity in samples with different ancestry backgrounds

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MetadadosDescriçãoIdioma
Autor(es): dc.contributorUniversidade Estadual Paulista (Unesp)-
Autor(es): dc.contributorUniversidade de São Paulo (USP)-
Autor(es): dc.creatorWeiss, Emiliana [UNESP]-
Autor(es): dc.creatorAndrade, Heloisa S. [UNESP]-
Autor(es): dc.creatorLara, Juliana Rodrigues [UNESP]-
Autor(es): dc.creatorSouza, Andreia S. [UNESP]-
Autor(es): dc.creatorPaz, Michelle A. [UNESP]-
Autor(es): dc.creatorLima, Thálitta H. A. [UNESP]-
Autor(es): dc.creatorPorto, Iane O. P. [UNESP]-
Autor(es): dc.creatorS. B. Silva, Nayane [UNESP]-
Autor(es): dc.creatorCastro, Camila F. Bannwart [UNESP]-
Autor(es): dc.creatorGrotto, Rejane M. T. [UNESP]-
Autor(es): dc.creatorDonadi, Eduardo A.-
Autor(es): dc.creatorMendes-Junior, Celso T.-
Autor(es): dc.creatorCastelli, Erick C. [UNESP]-
Data de aceite: dc.date.accessioned2022-02-22T00:49:51Z-
Data de disponibilização: dc.date.available2022-02-22T00:49:51Z-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-25-
Data de envio: dc.date.issued2021-06-01-
Fonte completa do material: dc.identifierhttp://dx.doi.org/10.1007/s00251-021-01206-9-
Fonte completa do material: dc.identifierhttp://hdl.handle.net/11449/207311-
Fonte: dc.identifier.urihttp://educapes.capes.gov.br/handle/11449/207311-
Descrição: dc.descriptionKIR2DL4 is an important immune modulator expressed in natural killer cells; HLA-G is its main ligand. We have characterized the KIR2DL4 genetic diversity by considering the promoter, all exons, and all introns in a highly admixed Brazilian population sample and by using massively parallel sequencing. We introduce a molecular method to amplify and to sequence the complete KIR2DL4 gene. To avoid the mapping bias and genotype errors commonly observed in gene families, we have developed and validated a bioinformatic pipeline designed to minimize these errors and applied it to survey the variability of 220 individuals from the State of São Paulo, southeastern Brazil. We have also compared the KIR2DL4 genetic diversity in the Brazilian cohort with the diversity previously reported by the 1000Genomes consortium. KIR2DL4 presents high linkage disequilibrium throughout the gene, with coding sequences associated with specific promoters. There are few but divergent promoter haplotypes. We have also detected many new KIR2DL4 sequences, all bearing nucleotide exchanges in introns and encoding previously described proteins. Exons 3 and 4, which encode the external domains, are the most variable. The ancestry background influences the KIR2DL4 allele frequencies and must be considered for association studies regarding KIR2DL4.-
Descrição: dc.descriptionFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)-
Descrição: dc.descriptionMolecular Genetics and Bioinformatics Laboratory - Experimental Research Unit School of Medicine São Paulo State University (UNESP)-
Descrição: dc.descriptionGenetics Program Institute of Biosciences of Botucatu São Paulo State University (UNESP)-
Descrição: dc.descriptionPathology Program School of Medicine São Paulo State University (UNESP)-
Descrição: dc.descriptionSchool of Agronomical Sciences São Paulo State University (UNESP)-
Descrição: dc.descriptionDepartment of Medicine Ribeirão Preto Medical School University of São Paulo (USP)-
Descrição: dc.descriptionDepartamento de Química Faculdade de Filosofia Ciências E Letras de Ribeirão Preto Universidade de São Paulo-
Descrição: dc.descriptionMolecular Genetics and Bioinformatics Laboratory - Experimental Research Unit School of Medicine São Paulo State University (UNESP)-
Descrição: dc.descriptionGenetics Program Institute of Biosciences of Botucatu São Paulo State University (UNESP)-
Descrição: dc.descriptionPathology Program School of Medicine São Paulo State University (UNESP)-
Descrição: dc.descriptionSchool of Agronomical Sciences São Paulo State University (UNESP)-
Descrição: dc.descriptionFAPESP: 2017/05042-4-
Descrição: dc.descriptionFAPESP: 2017/19223-0-
Formato: dc.format227-241-
Idioma: dc.languageen-
Relação: dc.relationImmunogenetics-
???dc.source???: dc.sourceScopus-
Palavras-chave: dc.subjectHaplotypes-
Palavras-chave: dc.subjectHLA-
Palavras-chave: dc.subjectKIR genes-
Palavras-chave: dc.subjectKIR2DL4-
Palavras-chave: dc.subjectNatural killer cells-
Palavras-chave: dc.subjectPolymorphisms-
Palavras-chave: dc.subjectSecond-generation sequencing-
Título: dc.titleKIR2DL4 genetic diversity in a Brazilian population sample: implications for transcription regulation and protein diversity in samples with different ancestry backgrounds-
Tipo de arquivo: dc.typelivro digital-
Aparece nas coleções:Repositório Institucional - Unesp

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