Structure and Chromosomal Assignment of the Human S1-5 Gene (FBNL) That Is Highly Homologous to Fibrillin |
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| Authors: | Shiro Ikegawa Tatsushi Toda Keiko Okui Yusuke Nakamura |
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| Affiliation: | aLaboratory of Molecular Medicine, Institute of Medical Science, University of Tokyo, 4-6-1 Shirokanedai, Minato-ku, Tokyo, 108, Japan;bDepartment of Biochemistry, Cancer Institute, 1-37-1 Kami-Ikebukuro, Toshima-ku, Tokyo, 170, Japan;cDepartment of Human Genetics, School of International Health, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113, Japan |
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| Abstract: | The human S1-5 gene (fibrillin-like; FBNL) was originally isolated from a subtractively enriched cDNA library established from a subject with Werner syndrome (WS). We isolated genomic clones containing the entire S1-5 gene and determined its genomic structure including the exon–intron organization. The gene spanned approximately 18 kb of genomic DNA and consisted of 12 exons. Its expression was abundant in all tissues examined except brain and peripheral leukocytes, where it was undetectable. In addition, we have mapped S1-5 by fluorescencein situhybridization to chromosome 2p16, a position that excludes it as a candidate for WS. Our data should facilitate an understanding of the function and regulation of S1-5 in human tissues. |
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