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1.
HLA ; 104(2): e15624, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39091248

ABSTRACT

The novel allele, HLA-DQB1*03:517, differs by a single nucleotide substitution in exon 3 to HLA-DQB1*03:02:01:02.


Subject(s)
Alleles , Exons , HLA-DQ beta-Chains , Histocompatibility Testing , Humans , HLA-DQ beta-Chains/genetics , Saudi Arabia , Base Sequence , Sequence Analysis, DNA , Polymorphism, Single Nucleotide , Sequence Alignment , Codon
5.
HLA ; 104(2): e15633, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39091269

ABSTRACT

Two novel HLA-DQB1 alleles, HLA-DQB1*05:01:50 and HLA-DQB1*06:486, characterised in bone marrow volunteers.


Subject(s)
Alleles , Exons , HLA-DQ beta-Chains , High-Throughput Nucleotide Sequencing , Humans , HLA-DQ beta-Chains/genetics , Histocompatibility Testing/methods , Base Sequence , Sequence Analysis, DNA/methods , Codon , Bone Marrow
9.
HLA ; 104(2): e15652, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39148314

ABSTRACT

The coding sequence of HLA-B*40:540N differs from HLA-B*40:02:01:01 by a non-synonymous nucleotide substitution in exon 3.


Subject(s)
Alleles , Base Sequence , Exons , Humans , Codon , Histocompatibility Testing , HLA-B Antigens/genetics , HLA-B40 Antigen/genetics , Sequence Alignment , Sequence Analysis, DNA , Tissue Donors , Male , Middle Aged
10.
Sci Rep ; 14(1): 19045, 2024 08 16.
Article in English | MEDLINE | ID: mdl-39152147

ABSTRACT

Ardisia crispa(Myrsinaceae) is an ethnomedicine with horticultural and important medicinal values. Its morphology is complex, and its identification is difficult. We analyse the chloroplast genome characteristics and phylogenetic position of A. crispa to provide basic research data for the identification of A. crispa species and resource conservation. This study assemble and annotate the chloroplast genome of A. crispa and to compare it with the chloroplast genome within Ardisia. The A. crispa chloroplast genome is 156,785 bp in length, with a typical quadripartite structure containing 131 genes, including 86 protein-coding genes, 37 tRNA genes, and 8 rRNA genes; a total of 59 SSRs sites were identified, and the codon preference of this chloroplast genome is greater in A/U than in G/C, and leucine is the amino acid with the highest frequency of use. The chloroplast genomes of the nine Ardisia species are conserved in gene content and number, with more stable boundaries and less variation. In the phylogenetic tree, A. crispa is clustered on a branch with A. crispa var dielsii, and is closely related to A. mamillata and A. pedalis. In this study, we constructed and analyzed the chloroplast genome structure of A. crispa, and conducted phylogenetic analysis using the whole chloroplast genome sequence data of Ardisia plants, which is of great significance in understanding the genetic basis of A. crispa and adaptive evolution in Ardisia plants, and this will lay the foundation for the future research on A. crispa resource conservation and species identification.


Subject(s)
Ardisia , Genome, Chloroplast , Phylogeny , Plants, Medicinal , Plants, Medicinal/genetics , Plants, Medicinal/classification , Ardisia/genetics , RNA, Transfer/genetics , Codon/genetics
12.
Int J Mol Sci ; 25(15)2024 Jul 29.
Article in English | MEDLINE | ID: mdl-39125860

ABSTRACT

Tetrastigma (Vitaceae) is known for its ornamental, medicinal, and ecological significance. However, the structural and variational characteristics of the Tetrastigma chloroplast genome and their impact on phylogenetic relationships remain underexplored. This study utilized bioinformatics methods to assemble and annotate the chloroplast genomes of 10 Tetrastigma species and compare them with five previously sequenced species. This study analyzed gene composition, simple sequence repeats, and codon usage patterns, revealing a high A/T content, uniquely identified pentanucleotide repeats in five species and several preferred codons. In addition, comparative analyses were conducted of the chloroplast genomes of 15 Tetrastigma species, examining their structural differences and identifying polymorphic hotspots (rps16, rps16-trnQ, trnS, trnD, psbC-trnS-psbZ, accD-psaI, psbE-petL-petG, etc.) suitable for DNA marker development. Furthermore, phylogenetic and selective pressure analyses were performed based on the chloroplast genomes of these 15 Tetrastigma species, validating and elucidating intra-genus relationships within Tetrastigma. Futhermore, several genes under positive selection, such as atpF and accD, were identified, shedding light on the adaptive evolution of Tetrastigma. Utilizing 40 Vitaceae species, the divergence time of Tetrastigma was estimated, clarifying the evolutionary relationships within Tetrastigma relative to other genera. The analysis revealed diverse divergences of Tetrastigma in the Miocene and Pliocene, with possible ancient divergence events before the Eocene. Furthermore, family-level selective pressure analysis identified key features distinguishing Tetrastigma from other genera, showing a higher degree of purifying selection. This research enriches the chloroplast genome data for Tetrastigma and offers new insights into species identification, phylogenetic analysis, and adaptive evolution, enhancing our understanding of the genetic diversity and evolutionary history of these species.


Subject(s)
Genome, Chloroplast , Phylogeny , Vitaceae , Genome, Chloroplast/genetics , Vitaceae/genetics , Vitaceae/classification , Evolution, Molecular , Microsatellite Repeats/genetics , Codon Usage , Selection, Genetic , Base Composition/genetics , Codon/genetics , Genetic Variation
13.
Int J Mol Sci ; 25(15)2024 Aug 01.
Article in English | MEDLINE | ID: mdl-39125967

ABSTRACT

The codon usage bias (CUB) of genes encoded by different species' genomes varies greatly. The analysis of codon usage patterns enriches our comprehension of genetic and evolutionary characteristics across diverse species. In this study, we performed a genome-wide analysis of CUB and its influencing factors in six sequenced Eimeria species that cause coccidiosis in poultry: Eimeria acervulina, Eimeria necatrix, Eimeria brunetti, Eimeria tenella, Eimeria praecox, and Eimeria maxima. The GC content of protein-coding genes varies between 52.67% and 58.24% among the six Eimeria species. The distribution trend of GC content at different codon positions follows GC1 > GC3 > GC2. Most high-frequency codons tend to end with C/G, except in E. maxima. Additionally, there is a positive correlation between GC3 content and GC3s/C3s, but a significantly negative correlation with A3s. Analysis of the ENC-Plot, neutrality plot, and PR2-bias plot suggests that selection pressure has a stronger influence than mutational pressure on CUB in the six Eimeria genomes. Finally, we identified from 11 to 15 optimal codons, with GCA, CAG, and AGC being the most commonly used optimal codons across these species. This study offers a thorough exploration of the relationships between CUB and selection pressures within the protein-coding genes of Eimeria species. Genetic evolution in these species appears to be influenced by mutations and selection pressures. Additionally, the findings shed light on unique characteristics and evolutionary traits specific to the six Eimeria species.


Subject(s)
Base Composition , Codon Usage , Eimeria , Eimeria/genetics , Base Composition/genetics , Animals , Genome, Protozoan , Coccidiosis/veterinary , Coccidiosis/parasitology , Coccidiosis/genetics , Evolution, Molecular , Codon/genetics
15.
HLA ; 104(2): e15644, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39132706

ABSTRACT

HLA-C*17:78 differs from HLA-C*17:03:01:03 by one nucleotide change C>T in exon 3 (GCG>GTG).


Subject(s)
Alleles , Base Sequence , Exons , HLA-C Antigens , Humans , HLA-C Antigens/genetics , India , Histocompatibility Testing , Sequence Analysis, DNA , Sequence Alignment , Polymorphism, Single Nucleotide , Codon
19.
20.
Vet Res ; 55(1): 99, 2024 Aug 06.
Article in English | MEDLINE | ID: mdl-39107851

ABSTRACT

Scrapie is a transmissible spongiform encephalopathy affecting sheep and goats. The prion protein-encoding gene (PRNP) plays a crucial role in determining susceptibility and resistance to scrapie. At the European level, surveillance of scrapie is essential to prevent the spread of the disease to livestock. According to the Regulation EU 2020/772 polymorphisms K222, D/S146 could function as resistance alleles in the genetic management of disease prevention. In Italy, a breeding plan for scrapie eradication has not been implemented for goats. However, surveillance plans based on the PRNP genotype have been developed as a preventive measure for scrapie. This research aimed to describe the polymorphisms at 7 positions within the PRNP gene in 956 goats of the Alpine, Saanen and mixed populations farmed in the Lombardy Region in Italy. PRNP polymorphisms were detected using single nucleotide polymorphism markers included in the Neogen GGP Goat 70 k chip. The K222 allele occurred in all populations, with frequencies ranging from 2.1 to 12.7%. No animals carried the S/D146 resistance allele. However, it has been demonstrated that polymorphisms in the other positions analysed could influence resistance or susceptibility to scrapie outbreaks in different ways. Ten potentially distinct haplotypes were found, and the most prevalent of the three populations was H2, which differed from the wild type (H1) in terms of mutation (S vs P) at codon 240. This study provided additional information on the genetic variability of the PRNP gene in these populations in the Lombardy region of Italy, contributing to the development of genetic control measures for disease prevention.


Subject(s)
Goat Diseases , Goats , Prion Proteins , Scrapie , Animals , Italy/epidemiology , Goats/genetics , Goat Diseases/genetics , Goat Diseases/epidemiology , Prion Proteins/genetics , Scrapie/genetics , Scrapie/epidemiology , Codon/genetics , Genetic Variation , Polymorphism, Single Nucleotide
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