Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18.

Abstract	Fibrillin proteins are major structural components of the 10-nm microfibrils found in elastic and nonelastic connective tissues. Previous studies have mapped the human genes for two fibrillins to chromosome bands 15q21 (FBN1) and 5q23-q31 (FBN2) and have demonstrated that FBN1 mutations are associated with Marfan syndrome, while FBN2 is linked to the gene for congenital contractural arachnodactyly. Here, we report the isolation of genomic clones of the corresponding mouse fibrillin genes (Fbn-1 and Fbn-2). By analyzing a mapping panel of mouse x rodent somatic hybrid cell lines, we have assigned the Fbn-1 gene to mouse chromosome 2 and the Fbn-2 gene to mouse chromosome 18. We then sublocalized the fibrillin genes to bands 2F (Fbn-1) and 18D-E1 (Fbn-2) by fluorescence in situ hybridization. These regions are known to exhibit conserved synteny with the regions on human chromosomes 15 and 5 that carry the homologous human fibrillin genes. In addition, the Fbn-1 gene maps in the vicinity of the gene for a connective tissue disorder on mouse chromosome 2 called Tight-skin (Tsk).
Authors	X Li, L Pereira, H Zhang, C Sanguineti, F Ramirez, J Bonadio, U Francke
Journal	Genomics (Genomics) Vol. 18 Issue 3 Pg. 667-72 (Dec 1993) ISSN: 0888-7543 [Print] United States
PMID	8307578 (Publication Type: Comparative Study, Journal Article, Research Support, Non-U.S. Gov't, Research Support, U.S. Gov't, P.H.S.)
Chemical References	DNA Primers DNA Probes FBN1 protein, human FBN2 protein, human Fbn1 protein, mouse Fbn1 protein, rat Fbn2 protein, mouse Fbn2 protein, rat Fibrillin-1 Fibrillin-2 Fibrillins Microfilament Proteins
Topics	Amino Acid Sequence Animals Base Sequence Chromosome Banding Chromosome Mapping Chromosomes, Human, Pair 15 Chromosomes, Human, Pair 5 Cloning, Molecular Connective Tissue Diseases (genetics) Conserved Sequence Cricetinae Cricetulus DNA Primers DNA Probes Fibrillin-1 Fibrillin-2 Fibrillins Hominidae (genetics) Humans Hybrid Cells In Situ Hybridization, Fluorescence Liver (metabolism) Marfan Syndrome (genetics) Mice (genetics) Microfilament Proteins (genetics) Molecular Sequence Data Polymerase Chain Reaction Rats Sequence Homology, Amino Acid

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.

Realize the full power of the drug-disease research graph!