STATE COLLEGE, Pa., April 29 (UPI) — U.S. scientists say their research on sex chromosomes in primates might affect future studies of human genetic diseases.
Pennsylvania State University scientists led by Associate Professor Kateryna Makova and former graduate student Erika Kvikstad said they used a statistical formula to study the chimpanzee, macaque, orangutan and human genomes. They said they discovered there is a strong sex chromosome bias in the distribution of transposable (jumping) elements.
That, the scientists said, provides insights about whether non-coding DNA elements integrate themselves specifically into the male or female germline — or into the genome during the early stages of embryogenesis.
Makova noted the sequence of the orangutan genome used in the study has not yet been published but she received special permission to use the data set.
She said the complex study has implications for understanding and perhaps someday even preventing and treating genetic diseases.
“For us to really understand how genetic diseases occur we need to know when the elements integrate — at what point in human development this occurs,” Makova said. “We are studying evolution mostly, but our results are relevant to genetic diseases caused by insertions of transposable elements in the genome.
The National Institutes of Health-funded research appears in the May issue of the journal Genome Research.
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