DNA matchmaker discovered


A team from University of Pittsburgh School of Medicine has discovered a protein that influences where genetic material lines up and gets swapped between the maternal and paternal chromosomes as an egg is formed. The study results are published in Nature and may reveal the source of chromosomal errors which may be the leading cause of failed pregnancies.

Each parent provides half of the 46 chromosomes found in each cell. Eggs and sperm are exceptions to the 46 count rule. These cells contain 23 chromosomes each and when they come together, they mix and bind their chromosomes to produce the 46 chromosome total needed for human life to begin in the germ cell or embryo. It’s that binding process that senior author Judith Yanowitz, PhD, assistant professor obstetrics, gynecology and reproductive sciences, Pitt school of Medicine, a member of the Magee-Womens Research Institute, and former staff associate at the Carnegie Institution of Washington, Baltimore, explored with her team.

“When germ cells form, segments of DNA are exchanged, or recombined, between maternal and paternal chromosomes, leading to greater diversity in the daughter cells,” she said. “Our research reveals a protein that plays a key role in choosing where those crossovers occur.” Failure to bind properly can lead to an incorrect number of chromosomes and defects which are the leading cause of infertility.

Despite the importance and interest in the process, little is known about this delicate maneuvering of DNA. Observations in the research study have narrowed down and identified the way chromosomes are packaged and delivered for the crossover. Usually the recombination begins where the fewest genes are present. In the lab, the team observed two common errors which occurred when a mutation in a protein was present: the chromosomes tried to recombine where there were the most genes or they failed to recombine altogether. The protein was the key to the recombining success. Further study is needed, but this could be an important first step in identifying why the missteps occur which lead to failed pregnancies for so many women.

Source: University of Pittsburgh, Medical News Today


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