RESUMO
Genomic sequence of HLA-DQB1*03:01:01:60, -DQB1*03:01:01:61, -DQB1*03:01:01:62, -DQB1*03:01:01:63, -DQB1*03:02:01:23, -DQB1*03:02:01:24, -DQB1*03:02:01:25 and -DQB1*03:03:02:14 alleles in Spanish individuals.
Assuntos
Alelos , Cadeias beta de HLA-DQ , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Cadeias beta de HLA-DQ/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Teste de Histocompatibilidade/métodos , Éxons , Espanha , Análise de Sequência de DNA/métodos , Variação GenéticaRESUMO
Genomic sequence of HLA-DPA1*01:03:01:73, -DPA1*01:03:01:80, DPA1*01:03:01:82, -DPA1*01:155:01:02, -DPA1*02:02:02:16 alleles in Spanish individuals.
Assuntos
Alelos , Cadeias alfa de HLA-DP , Humanos , Cadeias alfa de HLA-DP/genética , Éxons , Espanha , Teste de Histocompatibilidade , Análise de Sequência de DNA , Sequência de Bases , Alinhamento de SequênciaRESUMO
Characterisation of HLA-DQA1*01:02:01:30, HLA-DQA1*01:03:01:14, HLA-DQA1*03:03:01:20, HLA-DQA1*04:01:01:13, HLA-DQA1*05:05:01:40 alleles in Spanish individuals.
Assuntos
Alelos , Cadeias alfa de HLA-DQ , Humanos , Cadeias alfa de HLA-DQ/genética , Teste de Histocompatibilidade , Espanha , Análise de Sequência de DNA/métodos , Éxons , Sequência de BasesRESUMO
Background: The identification and analysis of allelic variation are important bases for crop diversity research, trait domestication and molecular marker development. Grain tannin content is a very important quality trait in sorghum. Higher tannin levels in sorghum grains are usually required when breeding varieties resistant to bird damage or those used for brewing liquor. Non-tannin-producing or low-tannin-producing sorghum accessions are commonly used for food and forage. Tan1 and Tan2, two important cloned genes, regulate tannin biosynthesis in sorghum, and mutations in one or two genes will result in low or no tannin content in sorghum grains. Even if sorghum accessions contain dominant Tan1 and Tan2, the tannin contents are distributed from low to high, and there must be other new alleles of the known regulatory genes or new unknown genes contributing to tannin production. Methods: The two parents 8R306 and 8R191 did not have any known recessive alleles for Tan1 and Tan2, and it was speculated that they probably both had dominant Tan1 and Tan2 genotypes. However, the phenotypes of two parents were different; 8R306 had tannins and 8R191 had non-tannins in the grains, so these two parents were constructed as a RIL population. Bulked segregant analysis (BSA) was used to determine other new alleles of Tan1 and Tan2 or new Tannin locus. Tan1 and Tan2 full-length sequences and tannin contents were detected in wild sorghum resources, landraces and cultivars. Results: We identified two novel recessive tan1-d and tan1-e alleles and four recessive Tan2 alleles, named as tan2-d, tan2-e, tan2-f, and tan2-g. These recessive alleles led to loss of function of Tan1 and Tan2, and low or no tannin content in sorghum grains. The loss-of-function alleles of tan1-e and tan2-e were only found in Chinese landraces, and other alleles were found in landraces and cultivars grown all around the world. tan1-a and tan1-b were detected in foreign landraces, Chinese cultivars and foreign cultivars, but not in Chinese landraces. Conclusion: These results implied that Tan1 and Tan2 recessive alleles had different geographically distribution in the worldwide, but not all recessive alleles had been used in breeding. The discovery of these new alleles provided new germplasm resources for breeding sorghum cultivars for food and feed, and for developing molecular markers for low-tannin or non-tannin cultivar-assisted breeding in sorghum.
Assuntos
Alelos , Sorghum , Taninos , Genes de Plantas/genética , Genes Recessivos/genética , Fenótipo , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Sorghum/genética , Sorghum/metabolismo , Taninos/genética , Taninos/metabolismoRESUMO
Characterization of HLA-DQB1*02:02:01:18, -DQB1*02:02:01:19, -DQB1*03:02:01:20 and -DQB1*05:03:01:10 alleles in Spanish individuals.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , MutaçãoRESUMO
Characterization of HLA-B*40:01:02:61, -B*48:01:01:14, and -C*01:02:01:69 alleles in Spanish individuals.
Assuntos
Genes MHC Classe I , Antígenos HLA-B , Humanos , Alelos , Antígenos HLA-B/genética , Genômica , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Forty-three novel HLA-H alleles, including 32 identified in cohorts of French donors for Hematopoietic Stem Cell Transplantation, have been characterized by Next-Generation Sequencing (NGS) using a long range PCR approach. A phylogenetic study confirms three main HLA-H clades.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Doadores de Tecidos , Humanos , Alelos , Filogenia , Sequenciamento de Nucleotídeos em Larga Escala , Teste de HistocompatibilidadeRESUMO
Characterization of HLA-DQB1*06:472, -DQB1*06:02:01:34 and -DQB1*06:04:01:06 alleles in Spanish individuals.
Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genéticaRESUMO
Three novel HLA Class I alleles, -A*02:1092, -A*29:01:01:11 and -B*44:03:01:58, characterized in Spanish individuals.
Assuntos
Antígenos HLA-A , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-A/genética , Antígenos HLA-B/genéticaRESUMO
Four novel HLA Class II alleles, HLA-DPA1*01:03:01:68, -DPA1*01:03:01:71, -DQA1*02:01:01:06, and -DQB1*06:03:01:19, characterized in Spanish individuals.
Assuntos
Cadeias alfa de HLA-DP , Humanos , Alelos , Cadeias alfa de HLA-DP/genética , Cadeias beta de HLA-DQ/genética , Haplótipos , Cadeias alfa de HLA-DQ/genética , Frequência do GeneRESUMO
Four novel HLA-DQA1 alleles, -DQA1*01:01:02:04, -DQA1*01:04:01:05, -DQA1*03:03:01:19 and -DQA1*05:01:01:08, characterized in Spanish individuals.
Assuntos
Alelos , Humanos , Cadeias alfa de HLA-DQ/genéticaRESUMO
HLA-A*29:172 allele differs from HLA-A*29:01:01:01 by one missense single C/G nucleotide exchange in codon 77.
Assuntos
Transplante de Células-Tronco Hematopoéticas , Polimorfismo de Nucleotídeo Único , Humanos , Sequência de Bases , Éxons/genética , Alelos , Alinhamento de Sequência , Teste de Histocompatibilidade , Expressão Gênica , Análise de Sequência de DNARESUMO
The guidelines for the implementation and reporting of HLA nomenclature for the World Marrow Donor Association have served as a reliable standard for communication of HLA data in the hematopoietic cell transplantation process. Wider use of next-generation sequencing made a special provision of the guidelines increasingly pertinent: how to communicate novel HLA alleles. Novel alleles need to be recognized by the WHO Nomenclature Committee for Factors of the HLA system to obtain official allele designations. Until then they have to be handled according to the specific rules. Leaving the actual rules basically unchanged we give some advice on how to communicate novel alleles to best facilitate the search process for cases where novel alleles are identified on donor or patient side.
Assuntos
Medula Óssea , Transplante de Células-Tronco Hematopoéticas , Humanos , Alelos , Antígenos HLA/genética , Teste de Histocompatibilidade , Sequenciamento de Nucleotídeos em Larga EscalaRESUMO
Three novel alleles were characterized by next-generation sequencing in Russian individuals.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Cadeias beta de HLA-DQ/genética , Antígenos HLA-B/genéticaRESUMO
Three novel HLA Class I alleles, -B*15:640, -B*18:01:01:71 and -C*05:275, characterized in Spanish individuals.
Assuntos
Antígenos HLA-B , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Alelos , Antígenos HLA-B/genética , Genes MHC Classe I , Teste de HistocompatibilidadeRESUMO
The DQA1*05:01:11 allele shows the TAA (UAA) stop codon instead of the common DQA1 TGA (UGA) stop codon.
Assuntos
Códon de Terminação , Humanos , Alelos , Éxons , Cadeias alfa de HLA-DQ/genéticaRESUMO
Three novel HLA Class II alleles, -DQA1*02:28, -DQA1*05:01:08:02 and -DQB1*03:02:01:13, characterized in Spanish individuals.
Assuntos
Antígenos HLA-DQ , Humanos , Antígenos HLA-DQ/genética , Frequência do Gene , Alelos , Cadeias beta de HLA-DQ/genética , Cadeias HLA-DRB1 , Haplótipos , Cadeias alfa de HLA-DQ/genéticaRESUMO
Four novel HLA-DPA1 alleles, -DPA1*01:03:01:59, -DPA1*01:03:01:60, -DPA1*02:01:01:30, and -DPA1*02:01:01:31, characterized in Spanish individuals.
Assuntos
Cadeias alfa de HLA-DP , Sequenciamento de Nucleotídeos em Larga Escala , Alelos , Cadeias alfa de HLA-DP/genética , Humanos , Íntrons/genéticaRESUMO
Interspecific breeding in cotton takes advantage of genetic recombination among desirable genes from different parental lines. However, the expression new alleles (ENAs) from crossovers within genic regions and their significance in fibre length (FL) improvement are currently not understood. Here, we generated resequencing genomes of 191 interspecific backcross inbred lines derived from CRI36 (Gossypium hirsutum) × Hai7124 (Gossypium barbadense) and 277 dynamic fibre transcriptomes to identify the ENAs and extremely expressed genes (eGenes) potentially influencing FL, and uncovered the dynamic regulatory network of fibre elongation. Of 35 420 eGenes in developing fibres, 10 366 ENAs were identified and preferentially distributed in chromosomes subtelomeric regions. In total, 1056-1255 ENAs showed transgressive expression in fibres at 5-15 dpa (days post-anthesis) of some BILs, 520 of which were located in FL-quantitative trait locus (QTLs) and GhFLA9 (recombination allele) was identified with a larger effect for FL than GhFLA9 of CRI36 allele. Using ENAs as a type of markers, we identified three novel FL-QTLs. Additionally, 456 extremely eGenes were identified that were preferentially distributed in recombination hotspots. Importantly, 34 of them were significantly associated with FL. Gene expression quantitative trait locus analysis identified 1286, 1089 and 1059 eGenes that were colocalized with the FL trait at 5, 10 and 15 dpa, respectively. Finally, we verified the Ghir_D10G011050 gene linked to fibre elongation by the CRISPR-cas9 system. This study provides the first glimpse into the occurrence, distribution and expression of the developing fibres genes (especially ENAs) in an introgression population, and their possible biological significance in FL.
Assuntos
Fibra de Algodão , Gossypium , Alelos , Gossypium/genética , Gossypium/metabolismo , Melhoramento Vegetal , Locos de Características Quantitativas/genéticaRESUMO
Identification of the novel DQA1*03:31, DQB1*05:01:01:19, DPA1*02:01:01:20 and DPA1*02:01:01:28 alleles by NGS.