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Non-coding DNA Defines Genetic Variation Between Species Print E-mail
SciMed - Genetics & Genome
TS-Si News Service   
Wednesday, 26 October 2011 15:00
Chimpanzee.Atlanta, GA, USA. The insertion and deletion of large pieces of DNA near genes are highly variable between humans and chimpanzees and may account for major differences between the two species.

A research team verified that while the DNA sequence of genes between humans and chimpanzees is nearly identical, there are large genomic "gaps" in areas adjacent to genes that can affect the extent to which genes are "turned on" and "turned off."


The research shows that these genomic "gaps" between the two species are predominantly due to the insertion or deletion (INDEL) of viral-like sequences called retrotransposons that are known to comprise about half of the genomes of both species. The findings are reported in the most recent issue of the journal Mobile DNA. "These genetic gaps have primarily been caused by the activity of retroviral-like transposable element sequences," said John McDonald, a Professor of Biology at the Georgia Institute of Technology (Georgia Tech).

John F. McDonald, PhD.

John F. McDonald, PhD, is Professor of Biology and Associate Dean for Biology Program Development (CSO Ovarian Cancer) at the Georgia Institute of Technology.
The current analysis of the genetic differences between humans and chimpanzees was motivated by the McDonald group's previously published findings that the higher propensity for cancer in humans vs. chimpanzees may have been a by-product of selection for increased brain size in humans. (2009)

For years, scientists believed the vast phenotypic differences between humans and chimpanzees would be easily explained – the two species must have significantly different genetic makeups. However, when their genomes were later sequenced, researchers were surprised to learn that the DNA sequences of human and chimpanzee genes are nearly identical. What then is responsible for the many morphological and behavioral differences between the two species?
Transposable elements were once considered junk DNA with little or no function. Now it appears that they may be one of the major reasons why we are so different from chimpanzees.

McDonald's research team examined the genomic gaps in both species and determined that they are significantly correlated with differences in gene expression reported previously by researchers at the Max Plank Institute for Evolutionary Anthropology in Germany.

"Our findings are generally consistent with the notion that the morphological and behavioral differences between humans and chimpanzees are predominately due to differences in the regulation of genes rather than to differences in the sequence of the genes themselves," said McDonald.

ParticipationMembers of John F. McDonald's research team at Georgia Tech participated in ths research: graduate students Nalini Polavarapu, Gaurav Arora and Vinay Mittal.
CitationCharacterization and potential functional significance of human-chimpanzee large INDEL variation. Nalini Polavarapu, Gaurav Arora, Vinay K Mittal, John F McDonald. Mobile DNA 2011; 2(13). doi:10.1186/1759-8753-2-13
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Abstract

Background. Although humans and chimpanzees have accumulated significant differences in a number of phenotypic traits since diverging from a common ancestor about six million years ago, their genomes are >98.5% identical at protein coding loci. This modest degree of nucleotide divergence is not sufficient to explain the extensive phenotypic differences between the two species. It has been hypothesized that the genetic basis of the phenotypic differences lies at the level of gene regulation, possibly associated with the extensive INDEL (insertion/deletion) variation between the two species. To test the hypothesis that large INDELs (80-12,000 bp) may have contributed significantly to differences in gene regulation between the two species, we categorized human-chimpanzee INDEL variation mapping in or around genes and determined whether this variation is significantly correlated with previously determined differences in gene expression.

Results. Extensive, large INDEL variation exists between the human and chimpanzee genomes. This variation is primarily attributable to retrotransposon insertions occurring within the human lineage. There is a significant correlation between differences in gene expression and human-chimpanzee large INDEL variation mapping in or in proximity to them.

Conclusions. The results are consistent with the hypothesis that large INDELs, particularly those associated with retrotransposons, have played a significant role in human-chimpanzee regulatory evolution.

Keywords: insertion and deletion, differential gene expression, retrotransposon, noninterspersed sequence, human insertion, short interspersed nuclear element.

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Last Updated on Wednesday, 26 October 2011 14:51