Mosaicism: Study clarifies parents as source of new disease mutations

PUBLIC RELEASE DATE:

31-Jul-2014

Contact: Glenna Picton picton@bcm.edu 713-798-4710 Baylor College of Medicine

HOUSTON (July 31, 2014) Scientists have long speculated that mosaicism a biological phenomenon, in which cells within the same person have a different genetic makeup plays a bigger role in the transmission of rare disease mutations than is currently known. A study conducted by an international team of scientists led by Baylor College of Medicine sheds new light on the frequency of mosaicism in genomic disorders and its influence on recurrence risk.

The study, which was published today in the American Journal of Human Genetics, also included scientists from the University of Leuven in Belgium, St. George's Healthcare Trust in London, Radbound University Medical Center in Nijmegen, Netherlands, the Institute of Mother and Child in Warsaw, Poland, and Trinity University in San Antonio, Texas.

One human, multiple genomes

With recent advances in genome technology, it is becoming increasingly apparent that a human individual is made up of a population of cells, each with its own "personal genome," said Dr. James Lupski, the Cullen Professor of Molecular and Human Genetics at Baylor, and a senior and corresponding author on the report. "Before this study, we understood very little about the centrality of mosaicism in the development of human disease."

In 2011, realizing the suspected importance of this, Lupski and his colleague Dr. Pawe Stankiewicz, associate professor of molecular and human genetics at Baylor and also a senior and corresponding author on the report, tasked graduate students in their labs Ian Campbell and Bo Yuan both currently fourth-year graduate students and co-first authors on the paper with providing a deeper understanding of the role of mosaicism and how it may contribute to genomic disorders.

It turns out Lupski and Stankiewicz's hunch was right: the study found that mosaicism is much more common than originally thought and contributes to recurrence risk in future offspring.

Mutations and mosaicism

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Mosaicism: Study clarifies parents as source of new disease mutations