Article
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease.
Nature neuroscience - 1 May 2011
Ghiasvand Noor M, Rudolph Dellaney D, Mashayekhi Mohammad, Brzezinski Joseph A, Goldman Daniel, Glaser Tom
Abstract excerpt
Individuals with nonsyndromic congenital retinal nonattachment (NCRNA) are totally blind from birth. The disease afflicts ∼1% of Kurdish people living in a group of neighboring villages in North Khorasan, Iran. We found that NCRNA is caused by a 6,523-bp deletion that spans a remote cis regulatory element 20 kb upstream from ATOH7 (Math5), a bHLH transcription factor gene that is required for retinal ganglion...
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