TY - JOUR
T1 - Differential expression of fibrillin-3 adds to microfibril variety in human and avian, but not rodent, connective tissues
AU - Corson, Glen M.
AU - Charbonneau, Noe L.
AU - Keene, Douglas R.
AU - Sakai, Lynn Y.
N1 - Funding Information:
We thank Robert Ono for help with transfections and purification of recombinant fibrillin-3; Dr. Steve C. Chalberg for producing recombinant fibrillin-2 polypeptide rF52: Sara Tufa for excellent technical assistance; the Analytical Core of the Portland Shriners Hospital for oligo synthesis, DNA sequencing, and peptide synthesis; and Dr. Hans Peter Bächinger for advice and encouragement. Support for this work was obtained from grants from the Shriners Hospitals for Children (to L.Y.S. and D.R.K.) and from the NIH (AR46811 to L.Y.S.).
PY - 2004/3
Y1 - 2004/3
N2 - The human genome contains three fibrillins: FBN1 and FBN2, both well characterized, and FBN3, reported only as a cDNA sequence. Like FBN2, the highest expression levels of FBN3 were found in fetal tissues, with only low levels in postnatal tissues. Immunolocalization demonstrated fibrillin-3 in extracellular microfibrils abundant in developing skeletal elements, skin, lung, kidney, and skeletal muscle. Unlike the other two fibrillins, FBN3 expression is high in brain, and FBN3 is alternatively spliced, removing the exon encoding cbEGF2. Like FBN1, FBN3 contains three alternate exons in the 5′ UTR. While FBN3 orthologs were identified in cow and chicken, Fbn3 appears to have been inactivated in the mouse genome, perhaps during chromosome fission events. Located on chromosome 19p13.3-13.2, FBN3 is a candidate gene for Weill-Marchesani syndrome.
AB - The human genome contains three fibrillins: FBN1 and FBN2, both well characterized, and FBN3, reported only as a cDNA sequence. Like FBN2, the highest expression levels of FBN3 were found in fetal tissues, with only low levels in postnatal tissues. Immunolocalization demonstrated fibrillin-3 in extracellular microfibrils abundant in developing skeletal elements, skin, lung, kidney, and skeletal muscle. Unlike the other two fibrillins, FBN3 expression is high in brain, and FBN3 is alternatively spliced, removing the exon encoding cbEGF2. Like FBN1, FBN3 contains three alternate exons in the 5′ UTR. While FBN3 orthologs were identified in cow and chicken, Fbn3 appears to have been inactivated in the mouse genome, perhaps during chromosome fission events. Located on chromosome 19p13.3-13.2, FBN3 is a candidate gene for Weill-Marchesani syndrome.
KW - Elastic fiber
KW - Extracellular matrix
KW - Fibrillin
KW - Heritable disorders of connective tissue
KW - Marfan syndrome
KW - Microfibril
KW - Weill-Marchesani syndrome
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U2 - 10.1016/j.ygeno.2003.08.023
DO - 10.1016/j.ygeno.2003.08.023
M3 - Article
C2 - 14962672
AN - SCOPUS:1242271343
SN - 0888-7543
VL - 83
SP - 461
EP - 472
JO - Genomics
JF - Genomics
IS - 3
ER -