Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice.

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Research Abstract Details 

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Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Abstract Text:

Wenmei Li,Yali Chen,D Joshua Cameron,Changguan Wang,Goutam Karan,Zhenglin Yang,Yu Zhao,Erik Pearson,Haoyu Chen,Chuxia Deng,Kimberly Howes,Kang Zhang,

ELOVL4 was first identified as a disease-causing gene in Stargardt macular dystrophy (STGD3, MIM 600110.) To date, three ELOVL4 mutations have been identified, all of which result in truncated proteins which induce autosomal dominant juvenile macular degenerations. Based on sequence homology, ELOVL4 is thought to be another member within a family of proteins functioning in the elongation of long chain fatty acids. However, the normal function of ELOVL4 is unclear. We generated Elovl4 knockout mice to determine if Elovl4 loss affects retinal development or function. Here we show that Elovl4 knockout mice, while perinatal lethal, exhibit normal retinal development prior to death at day of birth. Further, postnatal retinal development in Elovl4 heterozygous mice appears normal. Therefore haploinsufficiency for wildtype ELOVL4 in autosomal dominant macular degeneration likely does not contribute to juvenile macular degeneration in STGD3 patients. We found, however, that Elovl4+/- mice exhibit enhanced ERG scotopic and photopic a and b waves relative to wildtype Elovl4+/+ mice suggesting that reduced Elovl4 levels may impact retinal electrophysiological responses.

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Publishing Authors By Initials

W Li,Y Chen,DJ Cameron,C Wang,G Karan,Z Yang,Y Zhao,E Pearson,H Chen,C Deng,K Howes,K Zhang,

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Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Vision research

VOLUME: 47

Page Numbers: 714-22

Journal Abbreviation: Vision Res.

ISSN: 0042-6989

DAY: 24

MONTH: 01

YEAR: 2007

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Information

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LANGUAGE: eng

NlmUniqueID: 417402

Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Keywords Mesh Terms:

KEYWORDS: Reverse Transcriptase Polymerase Chain R

MESH TERMS: methods

Chemical & Substance for Abstract: Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice. Information

Substance Name: Membrane Proteins

Registry Number: 0

Grant and Affiliation Information for Elovl4 haploinsufficiency does not induce early onset retinal degeneration in mice.

AFFILIATION: Genetics of Development and Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.

Country: England

AGENCY: United States NEI

GRANT: R01EY14448

ACRONYM: EY

MEDLINETA: Vision Res

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