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Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease
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Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease
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Journal Article
Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease
2011
Overview
People with nonsyndromic congenital retinal nonattachment (NCRNA) are blind from birth. The authors show that NCRNA is caused by a deletion spanning a remote
cis
regulatory element upstream from
ATOH7
(
Math5
), a transcription factor gene required for retinal development. The deleted region is a conserved secondary transcriptional enhancer of
ATOH7
.
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 cell (RGC) and optic nerve development. In humans, the absence of RGCs stimulates massive neovascular growth of fetal blood vessels in the vitreous and early retinal detachment. The remote
ATOH7
element appears to act as a secondary or 'shadow' transcriptional enhancer. It has minimal sequence similarity to the primary enhancer, which is close to the
ATOH7
promoter, but drives transgene expression with an identical spatiotemporal pattern in the mouse retina. The human transgene also functions appropriately in zebrafish, reflecting deep evolutionary conservation. These dual enhancers may reinforce
ATOH7
expression during early critical stages of eye development when retinal neurogenesis is initiated.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Animal Genetics and Genomics
/ Animals
/ Animals, Genetically Modified
/ Basic Helix-Loop-Helix Transcription Factors - genetics
/ Biomedical and Life Sciences
/ Computational Biology - methods
/ Disease
/ Enhancer Elements, Genetic - genetics
/ Female
/ Gene Expression Regulation, Developmental - genetics
/ Genes
/ Humans
/ Luminescent Proteins - genetics
/ Male
/ Mice
/ Mutation
/ Polymorphism, Single Nucleotide - genetics
/ Retina
/ Retinal Detachment - congenital
/ Retinal Detachment - genetics
/ Retinal Detachment - pathology
/ Sequence Deletion - genetics
