Ocular retardation mouse caused by Chx10 homeobox null allele: Impaired retinal progenitor proliferation and bipolar cell differentiation

被引:430
作者
Burmeister, M
Novak, T
Liang, MY
Basu, S
Ploder, L
Hawes, NL
Vidgen, D
Hoover, F
Goldman, D
Kalnins, VI
Roderick, TH
Taylor, BA
Hankin, MH
McInnes, RR
机构
[1] HOSP SICK CHILDREN, DEPT PEDIAT, TORONTO, ON M5G 1X8, CANADA
[2] HOSP SICK CHILDREN, DEPT GENET, TORONTO, ON M5G 1X8, CANADA
[3] UNIV MICHIGAN, DEPT BIOL CHEM, ANN ARBOR, MI 48109 USA
[4] UNIV MICHIGAN, DEPT PSYCHIAT, ANN ARBOR, MI 48109 USA
[5] UNIV MICHIGAN, DEPT HUMAN GENET, ANN ARBOR, MI 48109 USA
[6] UNIV MICHIGAN, MENTAL HLTH RES INST, ANN ARBOR, MI 48109 USA
[7] UNIV TORONTO, DEPT MOLEC & MED GENET, TORONTO, ON M5S 1A8, CANADA
[8] MED COLL OHIO, DEPT ANAT & NEUROBIOL, TOLEDO, OH 43614 USA
[9] JACKSON LAB, BAR HARBOR, ME 04609 USA
[10] UNIV TORONTO, DEPT ANAT & CELL BIOL, TORONTO, ON M5S 1A8, CANADA
关键词
D O I
10.1038/ng0496-376
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Ocular retardation (or) is a murine eye mutation causing microphthalmia, a thin hypocellular retina and optic nerve aplasia. Here we show that mice carrying the or(j) allele have a premature stop codon in the homeobox of the Chx10 gene, a gene expressed at high levels in uncommitted retinal progenitor cells and mature bipolar cells. No CHX10 protein was detectable in the retinal neuroepithelium of or(j) homozygotes. The loss of CHX10 leads both to reduced proliferation of retinal progenitors and to a specific absence of differentiated bipolar cells. Other major retinal cell types were present and correctly positioned in the mutant retina, although rod outer segments were short and retinal lamination was incomplete. These results indicate that Chx10 is an essential component in the network of genes required for the development of the mammalian eye, with profound effects on retinal progenitor proliferation and bipolar cell specification or differentiation.
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页码:376 / 384
页数:9
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