The African American recombination map highlights areas that promote genetic variation in this population, making it a useful tool with which to study human evolution and the genetics of disease.
A separate group of researchers revealed a genome-wide recombination map in African American and African Caribbean individuals in Nature Genetics.
Both studies were released online July 20 and compare their African American recombination maps with that of European populations, finding that large-scale patterns of recombination appear to be very similar across populations, whereas fine-scale recombination patterns show population-specific differences.
Jennifer J. Hu, Ph.D., professor of epidemiology and public health at the Miller School, and her student, Jorge L. Rodriguez-Gil, participated in the collaborative study published in Nature.
The map measures the probability that chromosomes will cross over and DNA will be rearranged at each position in the genome. Comparing the African American recombination map with that of other populations enables researchers to highlight recombination hotspots – areas of the genome linked to genetic variation. The study’s authors describe about 2,500 such hotspots, which are active in African Americans but inactive in Europeans and identify a sequence variant responsible for this difference.
“The findings from this study will provide a resource for research in human genetic variation and evolution,” said Dr. Hu. “More importantly, it also has clinical implication that racial differences in human disease risk may be associated with genomic rearrangement errors near these African-enriched hotspots.”