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.
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Article Abstract:
Ataxia-telangiectasia (A-T) has ATM as the underlying gene. It encodes a large protein kinase with a phosphatidylinositol 3-kinase-like domain. ATM protein levels have been measured in six A-T variants and the ATM genes searched for mutations. Findings show there is a larger range of phenotypes associated with ATM mutations than had been known and show that some A-T variant phenotypes come from ATM mutations. Some of those are without telangiectasia. A-T is a complex multisystem autosomal recessive disorder.
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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.
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