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Evolution of the master Alu gene(s).

M R Shen1, M A Batzer, P L Deininger

  • 1Department of Biochemistry and Molecular Biology, Louisiana State University Medical Center, New Orleans 70112.

Journal of Molecular Evolution
|October 1, 1991
PubMed
Summary

This study reveals that primate evolution involved sequential accumulation of mutations in Alu sequences, with diagnostic mutations accurately dating Alu family members. Most amplified Alu elements at any time belonged to a single subfamily.

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Area of Science:

  • Genomics
  • Evolutionary Biology
  • Molecular Genetics

Background:

  • Alu sequences are repetitive elements in primate genomes.
  • Understanding Alu subfamily amplification provides insights into genome evolution.

Purpose of the Study:

  • To compare recently amplified Alu subfamilies.
  • To determine the timing of Alu sequence insertion into primate genomes.
  • To refine methods for dating Alu family members.

Main Methods:

  • Comparative analysis of Alu sequences across primate species.
  • Polymerase chain reaction (PCR) amplification of orthologous loci.
  • Identification and analysis of diagnostic mutations within Alu subfamilies.

Main Results:

  • Alu subfamily formation is explained by sequential mutation accumulation.
  • Diagnostic mutations are more accurate than sequence divergence for dating Alu members.
  • The vast majority of amplified Alu elements at any given time belonged to a single subfamily.
  • Alu master genes accumulated mutations, leading to distinct subfamily amplifications at different evolutionary times.

Conclusions:

  • Alu amplification follows a punctuated evolutionary model.
  • Master gene mutations drive the emergence of new Alu subfamilies.
  • Specific periods of intense Alu amplification occurred 40-25 million years ago and within the last 5 million years.

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