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Article

Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.

Cell - 12 Jul 1996

Schedl A, Ross A, Lee M, Engelkamp D, Rashbass P, van Heyningen V, Hastie N D

Abstract excerpt

Aniridia in man and Small eye in mice are semidominant developmental disorders caused by mutations within the paired box gene PAX6. Whereas heterozygotes suffer from iris hypoplasia, homozygous mice lack eyes and nasal cavities and exhibit brain abnormalities. To investigate the role of gene dosage in more detail, we have generated yeast artificial chromosome transgenic mice carrying the human PAX6 locus. When...

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Share to Base Sequence
Share to DNA-Binding Proteins
Share to Gene Expression Regulation, Developmental

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mice, Inbred C57BL

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Source

Identifiers

PMID: 8689689
DOI: 10.1016/s0092-8674(00)80078-1

Genes

PAX6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities.PMID 8689689Read ↗

Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype.Semantic proximity Read ↗

Genetic dissection of Pax6 dosage requirements in the developing mouse eye.Semantic proximity Read ↗

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene.Semantic proximity Read ↗

The human PAX6 gene is mutated in two patients with aniridia.Semantic proximity Read ↗

A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye.Semantic proximity Read ↗

Clinical and molecular aspects of aniridia.Semantic proximity Read ↗

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly.Semantic proximity Read ↗

Transcription Factor PAX6 (Paired Box 6) Controls Limbal Stem Cell Lineage in Development and DiseaseSemantic proximity Read ↗

Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients.Semantic proximity Read ↗

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.Semantic proximity Read ↗

Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.Semantic proximity Read ↗

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.Semantic proximity Read ↗

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