haploinsufficient

haploinsufficient

(hăp″lō-ĭn″sŭ-fĭsh′ĭnt) [Fr. Gr. haploos, simple + insufficient]
Having only one copy of a wild-type allele at a genetic locus. This results in an abnormal phenotype.
References in periodicals archive ?
We also found that a Wnt molecule may cause apparent opposite effects for bcl-7 mutant phenotypes, which showed a haploinsufficient phenotype.
Although the functional effect of RPL22 mutations in endometrial cancer remains to be determined, it is noteworthy that RPL22 has been suggested to be a haploinsufficient tumor suppressor gene, based on observations that 10% of primary T-cell acute lymphoblastic leukemias exhibit monoallelic deletion of RPL22 and that haploinsufficiency for RPL22 accelerates tumorigenesis in a mouse model of T-cell lymphoma (67).
PDGFRA-expressing mesenchymal cells have been described juxtaposed to the epithelial cell layer in the gallbladder of mouse embryos, and their diminished presence, detected in mice haploinsufficient for fork-head box f1 gene, seems to contribute to the defective formation of this viscus.
Timing of supplementation with the antioxidant N-acetyl-L-cysteine reduces tumor multiplicity in novel, cancer-prone p53 haploinsufficient Tg.
Strikingly, we observed a higher incidence of haploinsufficient genes in the rare CNVs in probands than in those of siblings, strongly indicating a functional impact of these CNVs on expression," said Geschwind.
Similarly, there is growing evidence that a number of cancer-related genes are haploinsufficient, so that even the loss of one functional copy of the gene is enough to favor the development of cancer (see references (5) for review).
Even modest reductions in ODC expression re-duced skin tumor susceptibility, as demonstrated by the reduced skin tumor yield in ODC +/- haploinsufficient mice subjected to a two-stage initiation-promotion protocol (13).
However, the Bcl11b tumor suppressor gene is exceptional, belonging to a class of haploinsufficient tumor suppressor genes.
In addition to receptor downregulation, excess OT has been shown to downregulate OTR-mRNA (42), and there appears to be a connection in haploinsufficient reeler mice arid OTR downregulation (43).
tm1Brd] (N5) Haploinsufficient Mice (Feed Studies).