Haplo-insufficiency? Let me count the ways

Article Abstract:

The many regions of loss of heterozygosity in human cancer for which no tumor suppressor gene has been found may hold a large number of haplo-insufficient tumor suppressor genes never to be found in traditional ways. Most evidence showing that haplo-insufficiency is a widespread phenomenon in tumor suppressor genes is from mouse knockout studies. Results of human mutational analyses are consistent with the possibility. The tumor suppressor genes so far identified skew toward genes that show weak or no haplo-insufficiency. If it is true that haplo-insufficiency for tumor suppression is much more widespread than has been thought, the definition may be too narrow.

Health aspects, Statistical Data Included, Gene mutations, Gene mutation, Cancer, Cancer genetics, Carcinogenesis

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p107 is a suppressor of retinoblastoma development in pRb-deficient mice

Article Abstract:

Experiments with mutant mice with inactivated Rb and p107 genes proves that p107 functions as a tumor suppressor. Rb deficiency leads to retinoblastoma development in mice. The details of the Rb/p107 deficiency on the chimeras and the process of the tumor development are discussed. The stages leading to apoptosis are analyzed.

Cell death, Mosaicism, Retinoblastoma

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Conditional biallelic Nf2 mutation in the mouse promotes manifestations of human neurofibromatosis type 2

Article Abstract:

Conditional biallelic Nf2 mutation in mice and its effect are discussed. It promotes manifestations of human neurofibromatosis type 2, a dominantly inherited genetic disorder. Conditional homozygous Nf2 knockout mice with Cre-mediated excision of Nf2 exon 2 in Schwann cells had characteristics of the disorder.

United States, Abnormalities, Physiological aspects, Mice, Mice (Rodents), Carrier proteins, Transport proteins, Mutation (Biology), Mutation, Neurofibromatosis, Schwann cells

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