Pax Genes ☆ | ScienceGate

AbstractIt is generally assumed that most mammalian genes are transcribed from both alleles. Hence, the diploid state of the genome offers the advantage that a loss-of-function mutation in one allele can be compensated for by the remaining wild-type allele of the same gene. Indeed, the vast majority of human disease syndromes and engineered mutations in the mouse genome are recessive, indicating that recessiveness is the ‘default’ state. However, a minority of genes are semi-dominant, as heterozygous loss-of-function mutation in these genes leads to phenotypic abnormalities. This condition, known as haploinsufficiency, has been described for five of the nine mammalian

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Pax genes, mutants and molecular function

Journal of Cell Science ◽

10.1242/jcs.1992.supplement_16.8 ◽

1992 ◽

Vol 1992 (Supplement 16) ◽

pp. 61-67 ◽

Cited By ~ 28

Author(s):

G. CHALEPAKIS ◽

P. TREMBLAY ◽

P. GRUSS

Keyword(s):

Molecular Function ◽

Pax Genes

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Pax-6, a murine paired box gene, is expressed in the developing CNS

Development ◽

10.1242/dev.113.4.1435 ◽

1991 ◽

Vol 113 (4) ◽

pp. 1435-1449 ◽

Cited By ~ 126

Author(s):

C. Walther ◽

P. Gruss

Keyword(s):

Amino Acids ◽

Neural Tube ◽

Multigene Family ◽

Ventricular Zone ◽

Open Reading Frame ◽

Cdna Clones ◽

Coding Region ◽

Paired Domain ◽

Reading Frame ◽

Pax Genes

A multigene family of paired-box-containing genes (Pax genes) has been identified in the mouse. In this report, we describe the expression pattern of Pax-6 during embryogenesis and the isolation of cDNA clones spanning the entire coding region. The Pax-6 protein consists of 422 amino acids as deduced from the longest open reading frame and contains, in addition to the paired domain, a paired-type homeodomain. Beginning with day 8 of gestation, Pax-6 is expressed in discrete regions of the forebrain and the hindbrain. In the neural tube, expression is mainly confined to mitotic active cells in the ventral ventricular zone along the entire anteroposterior axis starting at day 8.5 of development. Pax-6 is also expressed in the developing eye, the pituitary and the nasal epithelium.

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