New method helps link genomic variation to protein production

Public release date: 6-Nov-2012 [ | E-mail | Share ]

Contact: Cathy Yarbrough press@ashg.org 858-243-1814 American Society of Human Genetics

Scientists have adopted a novel laboratory approach for determining the effect of genetic variation on the efficiency of the biological process that translates a gene's DNA sequence into a protein, such as hemoglobin, according to a presentation, Nov. 6, at the American Society of Human Genetics 2012 meeting in San Francisco.

In the 0.1% of the DNA that differs between any two individuals, scientists search for the biological mechanisms underlying human genetic differences, including disease susceptibility.

"How exactly these slight changes in the DNA affect the biology of the human body is not known in most cases," said Constantin Polychronakos, M.D., professor of pediatrics, experimental medicine and human genetics at McGill University, Montreal, Canada.

"We decided to investigate the possibility that some of these changes may alter the translation of RNA into protein, a question that had not been systematically examined before," he added.

Translation is the final stage of gene expression at which the gene's DNA recipe for a protein can be modified, said McGill University scientist Quan Li, Ph.D., who presented the research.

In general, genomic studies have focused on finding links between diseases and variation in DNA. However, the new study takes a big step toward understanding how that variation affects the production of proteins, which are the molecules that most directly affect health and disease.

The study was designed to determine the effect of single-nucleotide polymorphisms (SNPs), which are variations in the DNA sequence, on the process of translation, Dr. Li said.

Translation begins when a gene's DNA sequence is transcribed into the messenger RNA (mRNA) molecule that carries the transcript, or the blueprint for the protein encoded by the gene, to ribosomes, where proteins are manufactured in a cell.

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New method helps link genomic variation to protein production