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Related Experiment Videos

Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23.

Hirobumi Sugawara1, Naoki Harada, Tomoko Ida

  • 1Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto 1-12-4, Nagasaki 852-8523, Japan.

Genomics
|July 3, 2003
PubMed
Summary

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A common 4.7-megabase (Mb) inversion at chromosome 8p23, flanked by low-copy repeats (LCRs), is prevalent in the Japanese population at 27%. These LCRs, containing olfactory receptor genes, likely multiplied over 21 million years ago.

Area of Science:

  • Genetics
  • Genomics
  • Human Evolution

Background:

  • The 8p23 region harbors a common polymorphic inversion.
  • Submicroscopic inversions can influence gene regulation and evolution.

Purpose of the Study:

  • To characterize the 4.7-megabase (Mb) 8p23 inversion.
  • To identify the genetic elements at the inversion breakpoints.
  • To determine the frequency of this inversion in the Japanese population.

Main Methods:

  • Construction of a complete BAC/PAC-based physical map of the 8p23 inversion.
  • Sequence comparison of low-copy repeats (LCRs) REPD and REPP.
  • Fluorescence in situ hybridization (FISH) analysis.
  • Population frequency analysis in Japanese individuals.

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Main Results:

  • Identified two LCRs, REPD (1.3 Mb) and REPP (0.4 Mb), at the inversion breakpoints.
  • REPD and REPP exhibit high sequence homology and contain olfactory receptor gene-related sequences.
  • LCRs showed conserved signals across species, suggesting multiplication occurred 21-25 million years ago.
  • The 8p23 inversion allele frequency in the Japanese population is 27%.

Conclusions:

  • The 8p23 inversion is characterized by homologous LCRs containing olfactory receptor genes.
  • The multiplication of these LCRs is an ancient evolutionary event.
  • The high frequency of the 8p23 inversion in the Japanese population indicates its common occurrence in humans.