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

Genomics. 1993 Dec;18(3):667-72. doi: 10.1016/s0888-7543(05)80371-4.

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).

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • 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

Substances

  • 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