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Genome Size and the Evolution of New Genes03:21

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
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Related Experiment Video

Updated: May 21, 2025

qKAT: Quantitative Semi-automated Typing of Killer-cell Immunoglobulin-like Receptor Genes
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Exploring the genetic mechanisms driving KIR diversification.

Marit K H van der Wiel1, Ngoc Giang Le1, Nanine de Groot1

  • 1Comparative Genetics and Refinement, Biomedical Primate Research Centre, Rijswijk, the Netherlands.

Journal of Immunology (Baltimore, Md. : 1950)
|March 17, 2025
PubMed
Summary

Killer cell immunoglobulin-like receptors (KIRs) exhibit diverse genomic configurations in humans and macaques. PRDM9 binding motifs near recombination hotspots may explain differing KIR gene diversification mechanisms.

Keywords:
PRDM9humanskiller cell immunoglobulin-like receptorsmacaquesrecombination

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Area of Science:

  • Immunology
  • Genetics
  • Molecular Biology

Background:

  • Killer cell immunoglobulin-like receptors (KIRs) regulate natural killer cell activity through interactions with Major Histocompatibility Complex (MHC) class I molecules.
  • KIR gene organization is complex, characterized by copy number variation and allelic polymorphism, likely driven by coevolution with polymorphic MHC ligands.
  • Humans display over 70 KIR region configurations, while rhesus macaques exhibit greater diversity with over 100 configurations, many featuring hybrid KIR genes.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying meiotic rearrangements in the KIR genomic region.
  • To compare KIR gene diversification processes between humans and rhesus macaques.
  • To identify factors contributing to the enhanced diversity of KIR configurations in macaques.

Main Methods:

  • Analysis of 21 rhesus macaque and 14 human KIR region configurations.
  • Identification of long terminal repeats and PRDM9 binding motifs within KIR recombination hotspots.
  • Comparative analysis of KIR gene structure and recombination patterns.

Main Results:

  • Long terminal repeats and PRDM9 binding motifs were identified in both human and macaque KIR regions, associated with recombination hotspots.
  • PRDM9's variable DNA recognition patterns may account for differences in KIR recombination activity between species.
  • The diversification of KIR repertoire differs significantly from T/B cell receptor and MHC polymorphism generation.

Conclusions:

  • The KIR genomic region utilizes a unique recombination machinery, potentially involving PRDM9, to generate diverse and functional gene configurations.
  • This sophisticated diversification mechanism ensures the generation of in-frame KIR genes, preserving functional integrity.
  • A diverse KIR repertoire is crucial for individual and population-level defense against pathogens.