A loss-of-function model for cystogenesis in human autosomal dominant polycystic kidney disease type 2

Article Abstract:

Autosomal dominant polycystic kidney disease (ADPKD) type 2 and a loss-of-function model for cystogenesis in human are discussed. Thirty renal cysts from a patient with PKD2 (ital) were studied in an effort to show that somatic mutations exist in renal cysts from a PKD2 (ital) kidney, and second-hit mutations were identified in the cysts.

Spain, Statistical Data Included, Usage, Gene mutations, Gene mutation, Genetic aspects, Polycystic kidney disease, Chromosome mapping, Genetic disorders, Cysts

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Type 2 NF1 deletions are highly unusual by virtue of the absence of nonallelic homologous recombination hotspots and an apparent preference for female mitotic recombination

Article Abstract:

The sites of recombination and breakpoint regions of three type 2 deletions are analyzed. The SUZ12 gene and its pseudogene constitute for nonallelic homologous recombination (NAHR) in the neurofibromatosis type 1(NF1) gene region leading to type 2 deletions.

Science & research, Genetic recombination, Mitosis, Chromosome deletion

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