| Texto completo | |
| Autor(es): Mostrar menos - |
Silva, Nayane dos Santos Brito
;
Souza, Andreia da Silva
;
Andrade, Heloisa de Souza
;
Pereira, Raphaela Neto
;
Castro, Camila Ferreira Bannwart
;
Vince, Nicolas
;
Limou, Sophie
;
Naslavsky, Michel Satya
;
Zatz, Mayana
;
Duarte, Yeda Aparecida de Oliveira
;
Mendes-Junior, Celso Teixeira
;
Castelli, Erick da Cruz
Número total de Autores: 12
|
| Tipo de documento: | Artigo Científico |
| Fonte: | HLA; v. 101, n. 6, p. 13-pg., 2023-04-02. |
| Resumo | |
HLA-B is among the most variable gene in the human genome. This gene encodes a key molecule for antigen presentation to CD8+ T lymphocytes and NK cell modulation. Despite the myriad of studies evaluating its coding region (with an emphasis on exons 2 and 3), few studies evaluated introns and regulatory sequences in real population samples. Thus, HLA-B variability is probably underestimated. We applied a bioinformatics pipeline tailored for HLA genes on 5347 samples from 80 different populations, which includes more than 1000 admixed Brazilians, to evaluate the HLA-B variability (SNPs, indels, MNPs, alleles, and haplotypes) in exons, introns, and regulatory regions. We observed 610 variable sites throughout HLA-B; the most frequent variants are shared worldwide. However, the haplotype distribution is geographically structured. We detected 920 full-length haplotypes (exons, introns, and untranslated regions) encoding 239 different protein sequences. HLA-B gene diversity is higher in admixed populations and Europeans while lower in African ancestry individuals. Each HLA-B allele group is associated with specific promoter sequences. This HLA-B variation resource may improve HLA imputation accuracy and disease-association studies and provide evolutionary insights regarding HLA-B genetic diversity in human populations. (AU) | |
| Processo FAPESP: | 17/19223-0 - Análise da variabilidade e estrutura haplotípica dos genes KIR2DL4, KIR3DL2, KIR3DL3, LILRB1(ILT2) e LILRB2 (ILT4) em uma amostra brasileira do estado de São Paulo |
| Beneficiário: | Erick da Cruz Castelli |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 13/17084-2 - Estudo da variabilidade, controle da expressão e história evolutiva dos genes de Classe I do MHC humano |
| Beneficiário: | Erick da Cruz Castelli |
| Modalidade de apoio: | Auxílio à Pesquisa - Regular |
| Processo FAPESP: | 21/02815-8 - Diversidade genética dos genes HLA de classe II em populações mundiais e detecção de variantes que influenciam o perfil de expressão desses genes |
| Beneficiário: | Nayane dos Santos Brito Silva |
| Modalidade de apoio: | Bolsas no Brasil - Doutorado |