The gene for microfibril-associated protein-1 (MFAP1) is located several megabases centromeric to FBN1 and is not mutated in Marfan syndrome

Human Genetics

Volumn 99, Issue 5, 1997, Pages 578-584

  Liu, Wanguo ^a   Faraco, Juliette ^b   Qian, Chiping ^a   Francke, Uta ^a,b  

^a STANFORD UNIVERSITY   (United States)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBRILLIN; SYNAPSIN I;

ALLELE; ARTICLE; CHROMOSOME 15Q; FIBER; FIBROBLAST CULTURE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC SCREENING; GENETIC TRANSCRIPTION; HUMAN; MARFAN SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

BASE SEQUENCE; CENTROMERE; CHROMOSOME MAPPING; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 15; CONTRACTILE PROTEINS; DNA PRIMERS; EXONS; EXTRACELLULAR MATRIX PROTEINS; GENE LIBRARY; HUMANS; LINKAGE (GENETICS); MARFAN SYNDROME; MICROFILAMENT PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0030891826     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050409     Document Type: Article

References (34)

1. Abrams WR, Ma R-I, Kucich U, Bashir MM, Decker S, Tsipouras P, McPherson JD, Wasmuth JJ, Rosenbloom J (1995) Molecular cloning of the microfibrillar protein MFAP3 and assignment of the gene to human chromosome 5q23-q33.2 Genomics 26 : 47-54
2. Aoyama T, Francke U, Dietz HC, Furthmayr H (1994) Quantitative differences in biosynthesis and extracellular deposition of fibrillin in cultured fibroblasts distinguish five groups of Marfan syndrome related patients and suggest distinct pathogenetic mechanisms. J Clin Invest 94 : 130-137
3. Aoyama T, Francke U, Gasner C, Furthmayr H (1995) Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. Am J Med Genet 58 : 169-176
4. Collod G, Babron M-C, Jondeau G, Coulon M, Weissenbach J, Dubourg O, Bourdarias J-P, Catherine B-P, Claudine J, Boileau C (1994) A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. Nat Genet 8 : 264-268
5. Dietz HC, Pyeritz RE, Hall BD, Cadle RG, Hamosh A, Schwartz J, Meyers DA, Francomano CA (1991 a) The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked marker at 15q15-q21.3. Genomics 9 : 355-361
6. Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, Puffenberger EG, Hamosh A, Nanthakumar E, Curristin S, Stellen G, Meyers DA, Francomano CA (1991b) Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature 352 : 337-339
7. Dietz HC, Francke U, Furthmayr H, Francomano C, De Paepe A, Devereux R, Ramirez F, Pyeritz R (1995) The question of heterogeneity in Marfan syndrome. Nat Genet 9 : 228-223
8. Escribano J, Hernando N, Ghosh S, Crabb J, Coca-Prados M (1994) cDNA from human ocular ciliary epithelium homologous to beta ig-h3 is preferentially expressed as an extracellular protein in the corneal epithelium. J Cell Physiol 160 : 511-521
9. Faraco J, Bashir M, Rosenbloom J, Francke U (1995) Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170. Genomics 25 : 630-637
10. Gibson MA, Hatzinikolas G, Davis EC, Baker E, Sutherland GR, Mecham RP (1995) Bovine latent transforming growth factor beta 1-binding protein 2: molecular cloning, identification of tissue isoforms, and immunolocalization to elastin-associated microfibrils. Mol Cell Biol 15 : 6932-6942
11. Gibson MA, Hatzinikolas G, Kumaratilake JS, Sandberg LB, Nicholl JK, Sutherland GR, Cleay EG (1996) Further characterization of proteins associated with elastic fiber microfibrils including the molecular cloning of MAGP-2 (MP25). J Biol Chem 271 : 1096-1103
12. Green ED, Green P (1991) Sequence-tagged site (STS) content mapping of human chromosomes: theoretical considerations and early experiences. PCR Methods Appl 1 : 77-90
13. Herrick DJ, Ross J (1994) The half-life of c-myc mRNA in growing and serum-stimulated cells: influence of the coding and 3′ untranslated regions and role of ribosome translocation. Mol Cell Biol 14 : 2119-2128
14. Horrigan SK, Rich CB, Streeten BW, Li Z-Y, Foster JA (1992) Characterization of an associated microfibril protein through recombinant DNA technqiues. J Biol Chem 267 : 10087-10095
15. Hudson TJ, et al (1995) An STS-based map of the human genome. Science 270 : 1945-1954
16. Kainulainen K, Pulkkinen L, Savolainen A, Kaitila I, Peltonen L (1990) Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med 323 : 935-939
17. Kainulainen K, Steinmann B, Collins F, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock SJH, Keston M, Pyeritz RE, Peltonen L (1991) Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene. Am J Hum Genet 49 : 662-667
18. Kainulainen K, Sakai LY, Child A, Pope FM, Puhakka L, Ryhanen L, Palotie A, Kaitila I, Peltonen L (1992) Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides. Proc Natl Acad Sci USA 89 : 5917-5921
19. Lee B, Godfrey M, Vital E, Hori H, Mattei M-G, Sarfarazi M, Tsipouras P, Ramirez F, Hollister DW (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352 : 330-334
20. Liu W, Qian C, Comeau K, Brenn T, Furthmayr H, Francke U (1996) Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe Marfan syndrome. Hum Mol Genet 5 : 1581-1587
21. Magenis RE, Maslen CL, Smith L, Allen L, Sakai LY (1991) Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1. Genomics 11 : 346-351
22. Mikkola H, Syrjala M, Rasi V, Vantera E, Hamalainen E, Peltonen L, Palotie A (1994) Deficiency in the A-subunit of coagulation factor XIII: two novel point mutations demonstrate different effects on transcript levels. Blood 84 : 517-525
23. Monaco A, Lam VMS, Zehetner G, Lennon GG, Douglas C, Nizetic D, Goodfellow PN, Lehrach H (1991) Mapping irradiation hybrids to cosmid and yeast artificial chromosome libraries by direct hybridization of Alu-PCR products. Nucleic Acids Res 19 : 3315-3318
24. Nijbroek G, Sood S, McIntosh I, Francomano CA, Bull E, Pereira L, Ramirez F, Pyeritz RR, Dietz HC (1995) Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet 57 : 8-21
25. Pérez Jurado L, Li X, Francke U (1995) The human calcitonin receptor gene (CALCR) at 7q21.3 is outside the deletion associiated with the Williams syndrome. Cytogenet Cell Genet 70 : 246-249
26. Sugano K, Kyogoku A, Fukayama N, Ohkura H, Shimosato Y, Sekiya T, Hayashi K (1993) Rapid and simple detection of c-Ki-ras2 gene codon 12 mutations by nonradioisotopic single-strand conformation polymorphism analysis. Lab Invest 65 : 361-365
27. Tagle DA, Collins FS (1992) An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids. Hum Mol Genet 1 : 121-122
28. Trask BJ, Massa H, Kenwrick S, Gitschier J (1991) Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei. Am J Hum Genet 48 : 1-15
29. Tsipouras P, Sarfarazi M, Devi A, Weiffenbach B, Boxer M (1991) Marfan syndrome is closely linked to a marker on chromosome 15q1.5-q.21. Proc Natl Acad Sci USA 88 : 4486-4488
30. Tynan K, Comeau K, Pearson M, Wilgenbus P, Levitt D, Gasner C, Berg MA, Miller CD, Francke U (1993) Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains. Hum Mol Genet 2 : 1813-1821
31. Whitfield TT, Sharpe CR, Wylie CC (1994) Nonsense-mediated mRNA decay in Xenopus oocytes and embryos. Dev Biol 165 : 731-734
32. Wirtz MK, Samples JR, Kramer PL, Rust K, Yount J, Acott TS, Koler RD, Cisler J, Jahed A, Gorlin RJ, Godfrey M (1996) Weill-Marchesani syndrome-possible linkage of the autosomal dominant form to 15q21.1. Am J Med Genet 65 : 68-75
33. Yeh H, Chow M, Abrams WR, Fan J, Foster J, Mitchell H, Muenke M, Rosenbloom J (1994) Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21. Genomics 23 : 443-449
34. Zhao Z, Lee C-C, Jiralerspong S, Juyal RC, Lu F, Baldini A, Greenberg F, Caskey CT, Patel PI (1995) The gene for human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. Hum Mol Genet 4 : 589-597