Journal article

Monoallelic expression of Pax5: A paradigm for the haploinsufficiency of mammalian Pax genes?

SL Nutt, M Busslinger

BIOLOGICAL CHEMISTRY | WALTER DE GRUYTER GMBH | Published : 1999

Abstract

It 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 Pax genes, which are associated..

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University of Melbourne Researchers