Marfan Syndrome Mutations Predominantly Alter Fibrillin Domain Folding
نویسندگان
چکیده
منابع مشابه
Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome.
Forty-four percent of the fibrillin-1 gene (FBN1) from 19 unrelated families with Marfan syndrome was screened for putative mutations by single strand conformational polymorphism (SSCP) analysis. Four novel mutations were identified and characterised in five people, three with classical Marfan syndrome (two from one family, and one from an unrelated family), one with a more severe phenotype, an...
متن کاملCellular and molecular studies of Marfan syndrome mutations identify co-operative protein folding in the cbEGF12-13 region of fibrillin-1.
Human fibrillin-1 is an extra-cellular matrix glycoprotein with a modular organisation that includes 43 calcium-binding epidermal growth factor-like (cbEGF) domains arranged as multiple tandem repeats interspersed with transforming growth factor beta binding protein-like (TB) domains. We have studied Marfan syndrome-causing mutations which affect calcium binding to cbEGF13, and demonstrate that...
متن کاملTwo novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families
PURPOSE To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes. METHODS Complete physical, ophthalmic, and cardiovascular examinations were given to the patients and unaffected individuals in the two families. Exclusive linkage mapping was performed for transforming growth factor beta receptor II (TGFBR2) a...
متن کاملMolecular effects of calcium binding mutations in Marfan syndrome depend on domain context.
Mutations in the human fibrillin-1 (FBN-1) gene cause Marfan syndrome (MFS), an autosomal dominant disease of connective tissue. Fibrillin-1, a 350 kDa extracellular calcium binding protein, is a major structural component of 10-12 nm microfibrils and consists predominantly of two repeated module types: the calcium binding epidermal growth factor-like (cbEGF) domain and the transforming growth ...
متن کاملA new missense mutation of fibrillin in a patient with Marfan syndrome.
A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.
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ژورنال
عنوان ژورنال: Biophysical Journal
سال: 2012
ISSN: 0006-3495
DOI: 10.1016/j.bpj.2011.11.1383