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Open Access Green as soon as Postprint is submitted to ZB.
PAX: Gene Regulators in the Developing Nervous System.
Dev. Neurobiol. 24, 1367-1384 (1993)
In recent years, the discovery of Pax genes in mouse has played an invaluable role in furthering our understanding in mouse developmental processes and disorders. To date, eight murine paired box-containing genes have been cloned. Seven of these exhibit a distinct spatiotemporal expression pattern in the developing nervous system implying a role in the regional specification of the developing spinal cord and brain. The Pax genes encode for sequence-specific DNA binding transcription factors that play a key role in embryonic development. Three of these developmental control genes are altered in mutant mice and two are associated with human diseases. Disruption of these Pax genes leads to abnormalities in neural crest derivatives, neuroectoderm, sclerotome or myotome-derived tissues. Disruption of the Pax-3 gene causes the Splotch phenotype in mice and Waardenburg syndrome in humans. Pax-6 mutations result in Small eye mice and the human genetic disorder aniridia. The Pax-1 gene is mutated in undulated mice. Pax proteins can transform cells in culture which then form tumours following injection in nude mice. Consistent with this activity, PAX3 has been recently implicated in the generation of the tumour alveolar rhabdomyosarcoma.
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Publication type
Article: Journal article
Document type
Scientific Article
ISSN (print) / ISBN
0022-3034
e-ISSN
1097-4695
Journal
Developmental Neurobiology
Quellenangaben
Volume: 24,
Issue: 10,
Pages: 1367-1384
Publisher
Wiley
Non-patent literature
Publications
Reviewing status
Peer reviewed