BRCA1 Linked to Brain Size

Tags: IBM supercomputer, Kerry Grens, Tracy Vence, Genome Digest, mutant mice, mouse brains, Salk Institute for Biological Studies, BRCA1, Inder Verma, neural stem cells
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The Scientist » The Nutshell BRCA1 Linked to Brain Size The breast cancer-associated gene may play a protective role in neural Stem cells, a mouse study finds. By Rina Shaikh-Lesko | March 20, 2014
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The BRCA1 gene, most famous for its link to breast cancer risk, may also play a role in neural development and influence brain size, according to a study published this week (March 17) in PNAS. Researchers have long known that BRCA1-knockout mice die soon after birth, but did not fully understand why.
A team led by Inder Verma of the Salk Institute for
Biological Studies in La Jolla, California, had
previously seen that BRCA1 is highly expressed in
the neuroectoderm, which is populated with neural
stem cells. So the researchers engineered mice in
which BRCA1 was knocked out in just the neural stem cells. They found that the brains of these mice
were a third the size of normal mouse brains, and had especially small regions for learning, memory,
motor control and sensation. Mature mutant mice had severe ataxia.
Upon closer inspection, the researchers found that neural stem cells were dying off at a high rate. They showed that BRCA1 prevented DNA breaks and that without it, excessive DNA damage triggered cell destruction. Brain cells that did survive looked like disorganized and deformed cancer cells. "This is important fundamental basic science about how the genome is protected in rapidly proliferating cells in the brain," Huda Zoghbi, a neuroscientist at Baylor College of Medicine in Houston, Texas, who was not involved with the study, told ScienceNOW. Tags neuroscience, mouse models, genetics & genomics, fetal brain, developmental biology, BRCA1 and brain
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