title: Conservation of 5'-upstream region of the FBN1 gene in primates.
abstract: Fibrillin-1 is a multifunctional extracellular protein encoded by the FBN1 gene. FBN1 is 237 kb in size and is located on chromosome 15q21. FBN1 mutations are known to cause Marfan syndrome and other fibrillinopathies. FBN1 is composed of 65 exons and 3 additional alternatively spliced exons at the 5' end. The absence of the peptide sequence from the extreme N-terminus of the fibrillin-1 protein and the presence of in-frame and alternatively spliced exons at the 5' end of the FBN1 gene create some ambiguity about the translation start site and indicate a functional role of these alternatively spliced exons. We demonstrate here the conservation of 5'-upstream region of the FBN1 gene among humans and non-human primates.
authors: Institute of Human Genetics, Hannover Medical School, Hannover, Germany.
authors: Krishna Kumar
authors: KK
authors: Singh
authors: Praphulla Chandra
authors: PC
authors: Shukla
authors: Joerg
authors: J
authors: Schmidtke
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D000818:Animals; D001665:Binding Sites; D017124:Conserved Sequence; D005091:Exons / Q000235:genetics; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D007438:Introns / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D011323:Primates / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid; D014157:Transcription Factors / Q000378:metabolism; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; D014157:Transcription Factors; C000605722:FBN1 protein, human; D054392:Adipokines