Fibrillin is an important structural protein of the extracellular matrix. It is a large cysteine-rich glycoprotein with extensive intrachain disulfide bonds, likely contributed by multiple EGF-like repeats. We have previously published 6.9 kb of FBN1 cDNA sequence. FBN1 cDNA clones that extend the sequence 3089 bp in the 5' direction are described in this report. The deduced primary structure suggests that fibrillin is composed of multiple domains. The most predominant feature is the presence of 43 calcium binding EGF-like repeats. We demonstrate here that fibrillin molecules bind calcium. In addition, three alternatively spliced exons at the 5' end are described. Analysis of 5.8 kb of surrounding genomic sequence revealed a 1.8-kb CpG island spanning the alternatively spliced exons and the next downstream exon. Since FBN1 is the gene responsible for Marfan syndrome, the information presented here will be useful in identifying new mutations and in understanding the function of fibrillin in the pathogenesis of the disease.
Alternative splicing of exon 37 of FBN1 deletes part of an 'eight-cysteine' domain resulting in the Marfan syndrome
Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene
Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly
N-terminal domains of fibrillin 1 and fibrillin 2 direct the formation of homodimers: a possible first step in microfibril assembly
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene
An extra cysteine in one of the non-calcium-binding epidermal growth factor-like motifs of the FBN1 polypeptide is connected to a novel variant of Marfan syndrome
Expression of a mutant human fibrillin allele upon a normal human or murine genetic background recapitulates a Marfan cellular phenotype
The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils
Partial biochemical and immunologic characterization of fibrillin microfibrils from sea cucumber dermis
Signaling pathway by which TGF-beta1 increases expression of latent TGF-beta binding protein-2 at the transcriptional level
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations
Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype
Structure and function of the mammalian fibrillin gene family: implications for human connective tissue diseases
Multi-exon out of frame deletion of the FBN1 gene leading to a severe juvenile onset cardiovascular phenotype in Marfan syndrome
Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
Genetic basis of thoracic aortic aneurysms and dissections: potential relevance to abdominal aortic aneurysms
Identifying specific proteins involved in eggshell membrane formation using gene expression analysis and bioinformatics
Molecular effects of homocysteine on cbEGF domain structure: insights into the pathogenesis of homocystinuria
Cysteine substitutions in epidermal growth factor-like domains of fibrillin-1: distinct effects on biochemical and clinical phenotypes
Engineered mutations in fibrillin-1 leading to Marfan syndrome act at the protein, cellular and organismal levels
Purification of fibrillin-containing microfibrils and collagen VI microfibrils by density gradient centrifugation
Structure and interdomain interactions of a hybrid domain: a disulphide-rich module of the fibrillin/LTBP superfamily of matrix proteins
FBN-1, a fibrillin-related protein, is required for resistance of the epidermis to mechanical deformation during C. elegans embryogenesis
Transcriptional profiling of the human fibrillin/LTBP gene family, key regulators of mesenchymal cell functions
Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders
Experimental and bioinformatic characterisation of the promoter region of the Marfan syndrome gene, FBN1
The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions
Optimized PCR conditions and increased shRNA fold representation improve reproducibility of pooled shRNA screens
Association of fibrillin 1 single-nucleotide polymorphism haplotypes with systemic sclerosis in Choctaw and Japanese populations
Correlation of a recurrent FBN1 mutation (R122C) with an atypical familial Marfan syndrome phenotype
Identification of the developmental marker, JB3-antigen, as fibrillin-2 and its de novo organization into embryonic microfibrous arrays
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations
Immunohistochemical localization of fibrillin in developing macaque and term human placentas and fetal membranes
Intragenic multi-exon deletion in the FBN1 gene in a child with mildly dilated aortic sinus: a retrotransposal event
Alternative exon splicing within the amino-terminal nontriple-helical domain of the rat pro-alpha 1(XI) collagen chain generates multiple forms of the mRNA transcript which exhibit tissue-dependent variation
Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily
Mutations in calcium-binding epidermal growth factor modules render fibrillin-1 susceptible to proteolysis. A potential disease-causing mechanism in Marfan syndrome
The calcium binding properties and molecular organization of epidermal growth factor-like domains in human fibrillin-1
Consequences of cysteine mutations in calcium-binding epidermal growth factor modules of fibrillin-1
Marfan syndrome as a paradigm for transcript-targeted preimplantation diagnosis of heterozygous mutations
Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome
Reference Expression Profile of Three FBN1 Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome
Modification of the structure and function of fibrillin-1 by homocysteine suggests a potential pathogenetic mechanism in homocystinuria
Identification and characterization of a new latent transforming growth factor-beta-binding protein, LTBP-4
Independent promoters regulate the expression of two amino terminally distinct forms of latent transforming growth factor-beta binding protein-1 (LTBP-1) in a cell type-specific manner
Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly
Microfibril-associated glycoprotein-1 (MAGP-1) binds to the pepsin-resistant domain of the alpha3(VI) chain of type VI collagen
Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25)
Latent transforming growth factor beta-binding protein 1 interacts with fibrillin and is a microfibril-associated protein
New insights into the structure, assembly and biological roles of 10-12 nm connective tissue microfibrils from fibrillin-1 studies
Characterization of microsatellite markers flanking FBN1: utility in the diagnostic evaluation for Marfan syndrome
Fibrillins can co-assemble in fibrils, but fibrillin fibril composition displays cell-specific differences
DPY-17 and MUA-3 Interact for Connective Tissue-Like Tissue Integrity in Caenorhabditis elegans: A Model for Marfan Syndrome
Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils
Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability
Pro-Fibrotic Phenotype in a Patient with Segmental Stiff Skin Syndrome via TGF-β Signaling Overactivation
Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin
Initial steps in assembly of microfibrils. Formation of disulfide-cross-linked multimers containing fibrillin-1
Intracellular mechanisms of molecular recognition and sorting for transport of large extracellular matrix molecules
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