RESUMO
The novel HLA-DPB1*14:01:15 allele differs from DPB1*14:01:01:01 by change of C > T in exon 3.
Assuntos
Alelos , Sequência de Bases , Éxons , Cadeias beta de HLA-DP , Teste de Histocompatibilidade , Doadores de Tecidos , Humanos , Cadeias beta de HLA-DP/genética , Brasil , Análise de Sequência de DNA/métodos , Medula Óssea , Alinhamento de Sequência , Códon , Transplante de Medula ÓsseaRESUMO
HLA-DQB1*02:211 allele differs from DQB1*02:02:01:02 by change of C â A in exon 2.
Assuntos
Alelos , Éxons , Cadeias beta de HLA-DQ , Doadores de Tecidos , Humanos , Cadeias beta de HLA-DQ/genética , Brasil , Teste de Histocompatibilidade , Transplante de Medula Óssea , Sequência de Bases , Análise de Sequência de DNA/métodos , Códon , Medula ÓsseaRESUMO
The new HLA-DRB3*03:69 allele differs from DRB3*03:01:01:03 by change of C â G in exon 3.
Assuntos
Alelos , Éxons , Cadeias HLA-DRB3 , Sequenciamento de Nucleotídeos em Larga Escala , Teste de Histocompatibilidade , Humanos , Sequência de Bases , Códon , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Cadeias HLA-DRB3/genética , Alinhamento de Sequência , Análise de Sequência de DNA/métodosRESUMO
The novel HLA-A*33:01:21 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-A , Humanos , Sequência de Bases , Transplante de Medula Óssea , Brasil , Teste de Histocompatibilidade , Antígenos HLA-A/genética , Análise de Sequência de DNA/métodos , Doadores de TecidosRESUMO
Protein folding and evolution are intimately linked phenomena. Here, we revisit the concept of exons as potential protein folding modules across a set of 38 abundant and conserved protein families. Taking advantage of genomic exon-intron organization and extensive protein sequence data, we explore exon boundary conservation and assess the foldon-like behavior of exons using energy landscape theoretic measurements. We found deviations in the exon size distribution from exponential decay indicating selection in evolution. We show that when taken together there is a pronounced tendency to independent foldability for segments corresponding to the more conserved exons, supporting the idea of exon-foldon correspondence. While 45% of the families follow this general trend when analyzed individually, there are some families for which other stronger functional determinants, such as preserving frustrated active sites, may be acting. We further develop a systematic partitioning of protein domains using exon boundary hotspots, showing that minimal common exons correspond with uninterrupted alpha and/or beta elements for the majority of the families but not for all of them.
Assuntos
Éxons , Dobramento de Proteína , Éxons/genética , Humanos , Proteínas/genética , Proteínas/química , Evolução Molecular , Íntrons/genéticaRESUMO
The novel HLA-C*01:273 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Brasil , Teste de Histocompatibilidade , Sequência de Bases , Doadores de Tecidos , Análise de Sequência de DNA/métodos , Alinhamento de Sequência , CódonRESUMO
Non-classical HLA-F*01:12 differs from F*01:01:01:09 at one position in exon 3.
Assuntos
Alelos , Éxons , Antígenos de Histocompatibilidade Classe I , Teste de Histocompatibilidade , Humanos , Brasil , Antígenos de Histocompatibilidade Classe I/genética , Antígenos de Histocompatibilidade Classe I/imunologia , Sequência de Bases , Análise de Sequência de DNA/métodos , Códon , Alinhamento de SequênciaRESUMO
Non-classical HLA-G*01:46 differs from G*01:01:03:03 at one position in exon 3.
Assuntos
Alelos , Éxons , Antígenos HLA-G , Humanos , Antígenos HLA-G/genética , Brasil , Teste de Histocompatibilidade , Sequência de Bases , Análise de Sequência de DNA/métodosRESUMO
Hereditary breast and ovarian cancer (HBOC) syndrome is a genetic condition that increases the risk of breast cancer by 80% and that of ovarian cancer by 40%. The most common pathogenic variants (PVs) causing HBOC occur in the BRCA1 gene, with more than 3850 reported mutations in the gene sequence. The prevalence of specific PVs in BRCA1 has increased across populations due to the effect of founder mutations. Therefore, when a founder mutation is identified, it becomes key to improving cancer risk characterization and effective screening protocols. The only founder mutation described in the Mexican population is the deletion of exons 9 to 12 of BRCA1 (BRCA1Δ9-12), and its description focuses on the gene sequence, but no transcription profiles have been generated for individuals who carry this gene. In this study, we describe the transcription profiles of cancer patients and healthy individuals who were heterozygous for PV BRCA1Δ9-12 by analyzing the differential expression of both alleles compared with the homozygous BRCA1 control group using RT-qPCR, and we describe the isoforms produced by the BRCA1 wild-type and BRCA1Δ9-12 alleles using nanopore long-sequencing. Using the Kruskal-Wallis test, our results showed a similar transcript expression of the wild-type allele between the healthy heterozygous group and the homozygous BRCA1 control group. An association between the recurrence and increased expression of both alleles in HBOC patients was also observed. An analysis of the sequences indicated four wild-type isoforms with diagnostic potential for discerning individuals who carry the PV BRCA1Δ9-12 and identifying which of them has developed cancer.
Assuntos
Alelos , Proteína BRCA1 , Síndrome Hereditária de Câncer de Mama e Ovário , Humanos , Proteína BRCA1/genética , Feminino , Síndrome Hereditária de Câncer de Mama e Ovário/genética , Pessoa de Meia-Idade , Predisposição Genética para Doença , Adulto , Efeito Fundador , Éxons/genética , Neoplasias da Mama/genética , Heterozigoto , Mutação , México , Neoplasias Ovarianas/genética , Relevância ClínicaRESUMO
The novel HLA-DRB1*03:215 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Cadeias HLA-DRB1 , Teste de Histocompatibilidade , Humanos , Cadeias HLA-DRB1/genética , Teste de Histocompatibilidade/métodos , Éxons , Análise de Sequência de DNA/métodos , Doadores de Tecidos , Brasil , Sequenciamento de Nucleotídeos em Larga Escala/métodosRESUMO
The novel HLA-B*18:243 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Antígeno HLA-B18 , Humanos , Alelos , Brasil , Éxons , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Antígeno HLA-B18/genética , Antígeno HLA-B18/imunologia , Análise de Sequência de DNA/métodos , Doadores de TecidosRESUMO
The novel HLA-DQB1*03:01:61 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Cadeias beta de HLA-DQ , Teste de Histocompatibilidade , Humanos , Sequência de Bases , Brasil , Códon , Cadeias beta de HLA-DQ/genética , Análise de Sequência de DNA , Doadores de TecidosRESUMO
The novel HLA-A*02:1140 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Antígeno HLA-A2 , Humanos , Brasil , Antígeno HLA-A2/genética , Antígeno HLA-A2/imunologia , Teste de Histocompatibilidade , Éxons , Doadores de Tecidos , Sequência de Bases , Análise de Sequência de DNA/métodos , Alinhamento de SequênciaRESUMO
The novel HLA-B*35:593 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Éxons , Antígenos HLA-B , Humanos , Alelos , Sequência de Bases , Brasil , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Antígenos HLA-B/genética , Antígeno HLA-B35/genética , Análise de Sequência de DNA/métodos , Doadores de TecidosRESUMO
The novel HLA-C*08:275 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Brasil , Teste de Histocompatibilidade , Doadores de Tecidos , Sequência de Bases , Análise de Sequência de DNA/métodos , Alinhamento de Sequência , CódonRESUMO
The novel HLA-C*15:274 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-C , Teste de Histocompatibilidade , Humanos , Antígenos HLA-C/genética , Teste de Histocompatibilidade/métodos , Análise de Sequência de DNA/métodos , Doadores de Tecidos , Brasil , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Sequência de BasesRESUMO
The novel HLA-A*30:218 allele, first described in a potential bone marrow donor from Brazil.
Assuntos
Alelos , Éxons , Antígenos HLA-A , Teste de Histocompatibilidade , Análise de Sequência de DNA , Humanos , Antígenos HLA-A/genética , Análise de Sequência de DNA/métodos , Teste de Histocompatibilidade/métodos , Doadores de Tecidos , Sequência de Bases , Brasil , Alinhamento de SequênciaRESUMO
Salinity in plants generates an osmotic and ionic imbalance inside cells that compromises the viability of the plant. Rab GTPases, the largest family within the small GTPase superfamily, play pivotal roles as regulators of vesicular trafficking in plants, including the economically important and globally cultivated tomato (Solanum lycopersicum). Despite their significance, the specific involvement of these small GTPases in tomato vesicular trafficking and their role under saline stress remains poorly understood. In this work, we identified and classified 54 genes encoding Rab GTPases in cultivated tomato, elucidating their genomic distribution and structural characteristics. We conducted an analysis of duplication events within the S. lycopersicum genome, as well as an examination of gene structure and conserved motifs. In addition, we investigated the transcriptional profiles for these Rab GTPases in various tissues of cultivated and wild tomato species using microarray-based analysis. The results showed predominantly low expression in most of the genes in both leaves and vegetative meristem, contrasting with notably high expression levels observed in seedling roots. Also, a greater increase in gene expression in shoots from salt-tolerant wild tomato species was observed under normal conditions when comparing Solanum habrochaites, Solanum pennellii, and Solanum pimpinellifolium with S. lycopersicum. Furthermore, an expression analysis of Rab GTPases from Solanum chilense in leaves and roots under salt stress treatment were also carried out for their characterization. These findings revealed that specific Rab GTPases from the endocytic pathway and the trans-Golgi network (TGN) showed higher induction in plants exposed to saline stress conditions. Likewise, disparities in gene expression were observed both among members of the same Rab GTPase subfamily and between different subfamilies. Overall, this work emphasizes the high degree of conservation of Rab GTPases, their high functional diversification in higher plants, and the essential role in mediating salt stress tolerance and suggests their potential for further exploration of vesicular trafficking mechanisms in response to abiotic stress conditions.
Assuntos
Proteínas de Plantas , Solanum lycopersicum , Proteínas rab de Ligação ao GTP , Solanum lycopersicum/enzimologia , Solanum lycopersicum/genética , Proteínas rab de Ligação ao GTP/química , Proteínas rab de Ligação ao GTP/genética , Proteínas rab de Ligação ao GTP/metabolismo , Perfilação da Expressão Gênica , Filogenia , Duplicação Gênica , Íntrons , Éxons , Motivos de Aminoácidos , Vesículas Transportadoras/metabolismo , Proteínas de Plantas/química , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismoRESUMO
Identification of the novel HLA-C*02:10:09 allele that differs from HLA-C*02:10:01:01 at one position in exon 1.
Assuntos
Genes MHC Classe I , Antígenos HLA-C , Humanos , Antígenos HLA-C/genética , Brasil , Alelos , Éxons/genéticaRESUMO
HLA-A*68:190:02 differs from A*68:190:01 by a single synonymous nucleotide change in exon 2.