We are analyzing https://link.springer.com/article/10.1186/gb-2003-4-5-r31.

Title:
Duplication and selection in the evolution of primate β-defensin genes | Genome Biology
Description:
Background Innate immunity is the first line of defense against microorganisms in vertebrates and acts by providing an initial barrier to microorganisms and triggering adaptive immune responses. Peptides such as β-defensins are an important component of this defense, providing a broad spectrum of antimicrobial activity against bacteria, fungi, mycobacteria and several enveloped viruses. β-defensins are small cationic peptides that vary in their expression patterns and spectrum of pathogen specificity. Disruptions in β-defensin function have been implicated in human diseases, including cystic fibrosis, and a fuller understanding of the variety, function and evolution of human β-defensins might form the basis for novel therapies. Here we use a combination of laboratory and computational techniques to characterize the main human β-defensin locus on chromosome 8p22-p23. Results In addition to known genes in the region we report the genomic structures and expression patterns of four novel human β-defensin genes and a related pseudogene. These genes show an unusual pattern of evolution, with rapid divergence between second exon sequences that encode the mature β-defensin peptides matched by relative stasis in first exons that encode signal peptides. Conclusions We conclude that the 8p22-p23 locus has evolved by successive rounds of duplication followed by substantial divergence involving positive selection, to produce a diverse cluster of paralogous genes established before the human-baboon divergence more than 23 million years ago. Positive selection, disproportionately favoring alterations in the charge of amino-acid residues, is implicated as driving second exon divergence in these genes.
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Keywords {🔍}

defb, genes, human, βdefensin, sequences, pubmed, selection, google, scholar, article, cas, data, βdefensins, baboon, positive, gene, evolution, exons, sequence, sites, additional, expression, substitutions, exon, peptide, nonsynonymous, comparisons, residues, file, antimicrobial, figure, duplication, divergence, peptides, synonymous, mature, aminoacid, defensins, found, model, shown, dna, site, genome, defbp, rtpcr, biol, mol, cysteine, method,

Topics {✒️}

miyata-yasunaga amino-acid classification β-defensin protein-sequence data article number r31 full-length human β-defensins related epididymis-specific spag11 bac-clone-based map olive baboon β-defensins human chromosome 8p22-23 chromosome 8p22-p23 bac clones rp11-161b1 olive baboon beta-defensins epididymis-specific gene ep2 uk/software/wise2] saitou major-histocompatibility-complex molecules unusual amino-acid composition mouse β-defensin gene primate-specific β-defensins bacterial infection disproportionately favoring alterations full size image 8p22-23 β-defensin locus uk/nomenclature] salvatore mature β-defensin peptide primate β-defensin genes β-defensin genes appears determining β-defensin structure functional human β-defensins β-defensin protein sequences human beta-defensins lead human β-defensin genes computational search strategy functional β-defensins presented mammalian β-defensin sequences mouse β-defensin defb2 detecting molecular adaptation human β-defensin cluster sequenced rt-pcr products tailed z-test results present full-length sequences specific salt-sensitive spectrum privacy choices/manage cookies conservative amino-acid change papio cynocephalus anubis site-specific likelihood models vertebrate immune system rt-pcr amplification confirmed central portion sensitive search gene pcr products excel file listing

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         description:Innate immunity is the first line of defense against microorganisms in vertebrates and acts by providing an initial barrier to microorganisms and triggering adaptive immune responses. Peptides such as β-defensins are an important component of this defense, providing a broad spectrum of antimicrobial activity against bacteria, fungi, mycobacteria and several enveloped viruses. β-defensins are small cationic peptides that vary in their expression patterns and spectrum of pathogen specificity. Disruptions in β-defensin function have been implicated in human diseases, including cystic fibrosis, and a fuller understanding of the variety, function and evolution of human β-defensins might form the basis for novel therapies. Here we use a combination of laboratory and computational techniques to characterize the main human β-defensin locus on chromosome 8p22-p23. In addition to known genes in the region we report the genomic structures and expression patterns of four novel human β-defensin genes and a related pseudogene. These genes show an unusual pattern of evolution, with rapid divergence between second exon sequences that encode the mature β-defensin peptides matched by relative stasis in first exons that encode signal peptides. We conclude that the 8p22-p23 locus has evolved by successive rounds of duplication followed by substantial divergence involving positive selection, to produce a diverse cluster of paralogous genes established before the human-baboon divergence more than 23 million years ago. Positive selection, disproportionately favoring alterations in the charge of amino-acid residues, is implicated as driving second exon divergence in these genes.
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      headline:Duplication and selection in the evolution of primate β-defensin genes
      description:Innate immunity is the first line of defense against microorganisms in vertebrates and acts by providing an initial barrier to microorganisms and triggering adaptive immune responses. Peptides such as β-defensins are an important component of this defense, providing a broad spectrum of antimicrobial activity against bacteria, fungi, mycobacteria and several enveloped viruses. β-defensins are small cationic peptides that vary in their expression patterns and spectrum of pathogen specificity. Disruptions in β-defensin function have been implicated in human diseases, including cystic fibrosis, and a fuller understanding of the variety, function and evolution of human β-defensins might form the basis for novel therapies. Here we use a combination of laboratory and computational techniques to characterize the main human β-defensin locus on chromosome 8p22-p23. In addition to known genes in the region we report the genomic structures and expression patterns of four novel human β-defensin genes and a related pseudogene. These genes show an unusual pattern of evolution, with rapid divergence between second exon sequences that encode the mature β-defensin peptides matched by relative stasis in first exons that encode signal peptides. We conclude that the 8p22-p23 locus has evolved by successive rounds of duplication followed by substantial divergence involving positive selection, to produce a diverse cluster of paralogous genes established before the human-baboon divergence more than 23 million years ago. Positive selection, disproportionately favoring alterations in the charge of amino-acid residues, is implicated as driving second exon divergence in these genes.
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         Bacterial Artificial Chromosome Sequence
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         Animal Genetics and Genomics
         Human Genetics
         Plant Genetics and Genomics
         Microbial Genetics and Genomics
         Bioinformatics
         Evolutionary Biology
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