Flexing DNA: HMG-box proteins and their partners

Article Abstract:

High-mobility group (HMG)-box proteins and partners are discussed from the perspective of the realization of recent years that DNA and transcription factors form a tight-knit 3-D arrangement with bends, twists and many internal protein contacts so that transcription factors are in touch, perhaps several of them. SRY, the best known of DNA-flexing proteins, is very likely to have a partner and likely interacts with it in its HMG box, and is considered with HMG1 and relatives and the building up of targeting specificity.

Italy, United States, Analysis, Usage, Physiological aspects, DNA, Proteins, Genetic regulation, Genetic transcription, Transcription (Genetics), RNA polymerases, Chromosome mapping, Genetic disorders, Homeobox genes, Cell nuclei, Cell nucleus, Protein structure, Sex determination, Genetic, Sex determination (Genetics)

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Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations

Article Abstract:

Ten ethnic populations have been studied to determine common mutations in the ATM gene associated with ataxia-telangiectasia (A-T). Ninety-two truncating mutations were found by screening 140 mutant alleles. Founder-effect mutations were found in Costa Rican, Norwegian, Polish, Italian and Amish/Mennonite populations. Genomic mutations and effects on cDNA were examined to enable assessment of ATM heterozygotes in relation to susceptibility to other diseases.

Human population genetics, Ataxia telangiectasia

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