BMB Reports
- 제34권1호
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- Pages.1-7
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- 2001
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- 1976-670X(eISSN)
The Homeobox and Genetic Disease: Structure and Dynamics of Wild Type and Mutant Homeodomain Proteins
- Ferretti, James A. (Laboratory of Biophysical Chemistry National Heart, Lung & Blood Institute National Institutes of Health Bethesda)
- 투고 : 2000.11.03
- 발행 : 2001.01.31
초록
Structural and physical properties of type wild type and various selected mutants of the vnd/NK-2 homeodomain, the protein product of the homeobox, and the implication in genetic disease are reviewed. The structure, dynamics and thermodynamics have been Investigated by NMR and by calorimetry. The interactions responsible for the nucleotide sequence-specific binding of the homeodomain to its consensus DNA binding site have been identified. There is a strong correlation between significant structural alterations within the homeodomain or its DNA complex and the appearance of genetic disease. Mutations in positions known to be important in genetic disease have been examined carefully For example, mutation of position 52 of vnd/NK-2 results in a significant structural modification and mutation of position 54 alters the DNA binding specificity and amity The