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Article (Scientific journals)
Pax genes and organogenesis.
Dahl, E.; Koseki, H.; Balling, Rudi
1997In BioEssays, 19 (9), p. 755-65
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Keywords :
Animals; DNA-Binding Proteins/genetics; Drosophila melanogaster; Embryonic and Fetal Development/genetics; Eye Proteins; Homeodomain Proteins; Humans; Mice; PAX2 Transcription Factor; Paired Box Transcription Factors; Repressor Proteins; Transcription Factors/genetics
Abstract :
[en] Pax genes are a family of developmental control genes that encode nuclear transcription factors. They are characterized by the presence of the paired domain, a conserved amino acid motif with DNA-binding activity. Originally, paired-box-containing genes were detected in Drosophila melanogaster, where they exert multiple functions during embryogenesis. In vertebrates, Pax genes are also involved in embryogenesis. Mutations in four out of nine characterized Pax genes have been associated with either congenital human diseases such as Waardenburg syndrome (PAX3), Aniridia (PAX6), Peter's anomaly (PAX6), renal coloboma syndrome (PAX2) or spontaneous mouse mutants (undulated (Pax1), Splotch (Pax3), Small eye (Pax6), Pax2(1)Neu), which all show defects in development. Recently, analysis of spontaneous and transgenic mouse mutants has revealed that vertebrate pax genes are key regulators during organogenesis of kidney, eye, ear, nose, limb muscles, vertebral column and brain. Like their Drosophila counterparts, vertebrate Pax genes are involved in pattern formation during embryogenesis, possibly by determining the time and place of organ initiation or morphogenesis. For most tissues, however, the nature of the primary developmental action of Pax transcription factors remains to be elucidated. One predominant theme is signal transduction during tissue interactions, which may lead to a position-specific regulation of cell proliferation.
Disciplines :
Genetics & genetic processes
Author, co-author :
Dahl, E.
Koseki, H.
Balling, Rudi 
Language :
English
Title :
Pax genes and organogenesis.
Publication date :
1997
Journal title :
BioEssays
ISSN :
0265-9247
Volume :
19
Issue :
9
Pages :
755-65
Peer reviewed :
Peer reviewed
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since 10 May 2013

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