title: Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development.
abstract: We investigated the function of Lhx2, a LIM homeobox gene expressed in developing B-cells, forebrain and neural retina, by analyzing embryos deficient in functional Lhx2 protein. Lhx2 mutant embryos are anophthalmic, have malformations of the cerebral cortex, and die in utero due to severe anemia. In Lhx2-/- embryos specification of the optic vesicle occurs; however, development of the eye arrests prior to formation of an optic cup. Deficient cellular proliferation in the forebrain results in hypoplasia of the neocortex and aplasia of the hippocampal anlagen. In addition to the central nervous system malformations, a cell non-autonomous defect of definitive erythropoiesis causes severe anemia in Lhx2-/- embryos. Thus Lhx2 is necessary for normal development of the eye, cerebral cortex, and efficient definitive erythropoiesis.
authors.affiliation: Heritable Disorders Branch, National Institutes of Health, Bethesda, MD 20892, USA. fdporter@helix.nih.gov
authors.forename: F D
authors.initials: FD
authors.lastname: Porter
authors.forename: J
authors.initials: J
authors.lastname: Drago
authors.forename: Y
authors.initials: Y
authors.lastname: Xu
authors.forename: S S
authors.initials: SS
authors.lastname: Cheema
authors.forename: C
authors.initials: C
authors.lastname: Wassif
authors.forename: S P
authors.initials: SP
authors.lastname: Huang
authors.forename: E
authors.initials: E
authors.lastname: Lee
authors.forename: A
authors.initials: A
authors.lastname: Grinberg
authors.forename: J S
authors.initials: JS
authors.lastname: Massalas
authors.forename: D
authors.initials: D
authors.lastname: Bodine
authors.forename: F
authors.initials: F
authors.lastname: Alt
authors.forename: H
authors.initials: H
authors.lastname: Westphal
mesh_terms: D000740:Anemia / Q000235:genetics; D000818:Animals; D001921:Brain / Q000196:embryology; D017690:Cell Transplantation; D002540:Cerebral Cortex / Q000196:embryology*; D004268:DNA-Binding Proteins / Q000235:genetics; D004920:Erythropoiesis / Q000235:genetics*; D005123:Eye / Q000196:embryology*; D005136:Eye Proteins; D018507:Gene Expression Regulation, Developmental; D005801:Genes, Homeobox / Q000502:physiology*; D018398:Homeodomain Proteins / Q000235:genetics / Q000502:physiology*; D060850:LIM-Homeodomain Proteins; D008099:Liver / Q000166:cytology / Q000196:embryology; D051379:Mice; D018345:Mice, Knockout; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; D012097:Repressor Proteins; D013234:Stem Cells; D014157:Transcription Factors / Q000235:genetics / Q000502:physiology*
chemical_list: D004268:DNA-Binding Proteins; D005136:Eye Proteins; D018398:Homeodomain Proteins; D060850:LIM-Homeodomain Proteins; C489784:Lhx2 protein, mouse; D000071841:PAX6 Transcription Factor; D051761:Paired Box Transcription Factors; C000605732:Pax6 protein, mouse; D012097:Repressor Proteins; D014157:Transcription Factors