Structure and evolution of the filaggrin gene repeated region in primates

Vanessa Romero, Kazuyoshi Hosomichi, Hirofumi Nakaoka, Hiroki Shibata, Ituro Inoue

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Background: The evolutionary dynamics of repeat sequences is quite complex, with some duplicates never having differentiated from each other. Two models can explain the complex evolutionary process for repeated genes - concerted and birth-and-death, of which the latter is driven by duplications maintained by selection. Copy number variations caused by random duplications and losses in repeat regions may modulate molecular pathways and therefore affect phenotypic characteristics in a population, resulting in individuals that are able to adapt to new environments. In this study, we investigated the filaggrin gene (FLG), which codes for filaggrin - an important component of the outer layers of mammalian skin - and contains tandem repeats that exhibit copy number variation between and within species. To examine which model best fits the evolutionary pathway for the complete tandem repeats within a single exon of FLG, we determined the repeat sequences in crab-eating macaque (Macaca fascicularis), orangutan (Pongo abelii), gorilla (Gorilla gorilla), and chimpanzee (Pan troglodytes) and compared these with the sequence in human (Homo sapiens). Results: In this study we compared concerted and birth-and-death evolution models, commonly used for gene copies. We found that there is high nucleotide diversity between filaggrin repeat regions, which fits the birth-and-death model. Phylogenetic analyses also suggested that independent duplication events created the repeat sequences in crab-eating macaques and orangutans, while different duplication and loss events created the repeats in gorillas, chimpanzees, and humans. Comparison of the repeat sequences detected purifying selection within species and lineage-specific duplications across species. We also found variation in the length of the repeated region within species such as chimpanzee and crab-eating macaque. Conclusions: We conclude that the copy number variation in the repeat sequences of FLG between primates may be a consequence of species-specific divergence and expansion.

Original languageEnglish
Pages (from-to)1-13
Number of pages13
JournalBMC Evolutionary Biology
Volume17
Issue number1
DOIs
Publication statusPublished - Jan 11 2017

Fingerprint

Pan troglodytes
primate
Primates
Macaca
Gorilla gorilla
crabs
Pongo pygmaeus
tandem repeat sequences
gene
ingestion
death
crab
genes
population characteristics
Gorilla
Macaca fascicularis
skin (animal)
exons
nucleotides
skin

All Science Journal Classification (ASJC) codes

  • Ecology, Evolution, Behavior and Systematics

Cite this

Structure and evolution of the filaggrin gene repeated region in primates. / Romero, Vanessa; Hosomichi, Kazuyoshi; Nakaoka, Hirofumi; Shibata, Hiroki; Inoue, Ituro.

In: BMC Evolutionary Biology, Vol. 17, No. 1, 11.01.2017, p. 1-13.

Research output: Contribution to journalArticle

Romero, Vanessa ; Hosomichi, Kazuyoshi ; Nakaoka, Hirofumi ; Shibata, Hiroki ; Inoue, Ituro. / Structure and evolution of the filaggrin gene repeated region in primates. In: BMC Evolutionary Biology. 2017 ; Vol. 17, No. 1. pp. 1-13.
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