Danger on chromosome 15

(Philadelphia, PA) While it might have given our ancestors an evolutionary advantage, an "unstable" region on human chromosome 15 is also the source of a set of inherited neurological diseases. Researchers at the University of Pennsylvania School of Medicine discovered four new genes normally found on chromosome 15 that, when lost, may contribute to Prader-Willi and Angelman syndromes. Subsequently, the researchers were able to determine that the mutation of one these four genes, NIPA1, is also responsible for a hereditary disease called spastic paraplegia.

Their findings make genetic screenings and drug development for spastic paraplegia possible and can open the door for better diagnosis of chromosome 15 rearrangements, including deletions that cause Prader-Willi and Angelman syndromes, and duplications found in some cases of autism.

"Genes located in this part of chromosome 15 sit among a lot of genetic flotsam and duplicated regions we refer to as breakpoint regions. In the grand scheme of things, this is an evolutionary plus for humans, as these regions are prone to genetic recombination, duplication and other forms of gene shuffling that can add diversity to the human genome in the process of passing down chromosomes," said Robert D. Nicholls, D. Phil, a Professor in Penn's Departments of Psychiatry and Genetics. "In individuals, however, it can cause disease."

Nicholls and his colleagues announce their findings in two separate papers in the October issue of the American Journal of Human Genetics (available now online). The first paper describes how breakpoint regions on human chromosome 15 contribute to chromosome rearrangements in evolution and Prader-Willi and Angelman syndromes, and identifies four new genes named NIPA1, NIPA2, CYFIPI, and GCP5 in the most unstable part of chromosome 15. The second paper details how researchers linked a mutation in NIPA1 to families with hereditary spastic paraplegia.

"What we see here is two v

Contact: Greg Lester
University of Pennsylvania School of Medicine

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