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Olfactomedin domain-containing proteins: evolution, functional divergence, expression patterns and damaging SNPs.

Qin Li1,2, Ake Liu3, Xun Gu4

  • 1Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai, 200438, China.

Molecular Genetics and Genomics : MGG
|March 28, 2019
PubMed
Summary

Olfactomedin domain-containing (OLF) proteins are crucial for development. This study reveals their evolutionary paths, identifies new gene subfamilies in arthropods, and pinpoints mutations affecting OLFML2B, impacting neurodevelopment and immunity.

Keywords:
DivergeGene expressionOlfactomedinPhylogenetic analysisSNP

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Area of Science:

  • Evolutionary biology
  • Genomics
  • Molecular biology

Background:

  • Olfactomedin domain-containing (OLF) proteins are vital for neurodevelopment, cell adhesion, and intercellular interactions.
  • Disruptions in OLF gene expression can cause severe developmental issues and lethality.

Purpose of the Study:

  • To investigate the evolution and diversification of OLF genes across metazoans.
  • To characterize OLF gene expression profiles and identify detrimental mutations.

Main Methods:

  • Conducted a comprehensive survey of OLF genes in 29 metazoan species.
  • Performed phylogenetic analyses to define OLF gene subfamilies.
  • Analyzed OLF gene expression in humans and rats using SIFT and PolyPhen servers.

Main Results:

  • Identified 235 OLF proteins and defined nine subfamilies, including a novel arthropod-specific subfamily (IX).
  • Detected functional divergence in the arthropod-specific OLF subfamily.
  • Human OLF genes showed high brain expression; rat OLF genes expressed in the ovary and brain.
  • OLFML2B contains the most deleterious single nucleotide polymorphisms (SNPs), while OLFM2, OLFM4, and LPHN2 had no predicted harmful mutations.

Conclusions:

  • Findings enhance understanding of OLF gene family phylogeny and evolution.
  • The study provides insights into OLF protein roles in nervous system development and immune function.
  • Identified specific mutations in OLFML2B that may warrant further investigation.