Heterozygous mutations in the gene encoding noggin affect human joint morphogenesis

Nature Genetics

Volumn 21, Issue 3, 1999, Pages 302-304

  Gong, Yaoqin ^a,b   Krakow, Deborah ^c,d   Marcelino, Jose ^a   Wilkin, Douglas ^e   Chitayat, David ^f   Babul Hirji, Riyana ^f   Hudgins, Louanne ^g   Cremers, Cor W ^h   Cremers, Frans P M ^h   Brunner, Han G ^h   Reinker, Kent ⁱ   Rimoin, David L ^c,d   Cohn, Daniel H ^c,d   Goodman, Frances R ^j   Reardon, William ^j   Patton, Michael ^k   Francomano, Clair A ^e   Warman, Matthew L ^a  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c CEDARS SINAI MEDICAL CENTER   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^f HOSPITAL FOR SICK CHILDREN   (Canada)

^g SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^h RADBOUD UNIVERSITY NIJMEGEN   (Netherlands)

ⁱ Shriner's Hospital   (United States)

^j UNIVERSITY COLLEGE LONDON   (United Kingdom)

^k ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; EMBRYO DEVELOPMENT; GENE MUTATION; HAND MALFORMATION; HUMAN; NUCLEOTIDE SEQUENCE; OSSIFICATION; PATHOGENESIS; PRIORITY JOURNAL; SYNOSTOSIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ANIMALS; CARRIER PROTEINS; CATS; CHICKENS; CHROMOSOME MAPPING; FEMALE; FINGER JOINT; GENE EXPRESSION REGULATION, DEVELOPMENTAL; GENETIC MARKERS; GORILLA GORILLA; HETEROZYGOTE; HUMANS; JOINTS; MALE; MICE; MOLECULAR SEQUENCE DATA; MORPHOGENESIS; MUTATION; PROTEINS; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE HOMOLOGY, NUCLEIC ACID; SWINE; SYNOSTOSIS; XENOPUS LAEVIS; ZEBRAFISH;

EID: 0033052269     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/6821     Document Type: Article

References (24)

1. Zimmerman, L.B., De Jesus-Escobar, J.M. & Harland, R.M. The Spemann organizer signal noggin binds and inactivates bone morphogenetic protein 4. Cell 86, 599-666 (1996).
2. Jossa, C.M. & Smith, J.C. Establishment of a BMP-4 morphogen gradient by long-range inhibition. Dev. Biol. 194, 12-17 (1998).
3. McMahon, J.A. et al. Noggin-mediated antagonism of BMP signaling is required for growth and patterning of the neural tube and somite. Genes Dev. 12, 1438-1452 (1998).
4. Brunet, L.J., McMahon, J.A., McMahon, A.P. & Harland, R.M. Noggin, cartilage morphogenesis, and joint formation in the mammalian skeleton. Science 280, 1455-1457 (1998).
5. Copdevila, J. & Johnson R.L. Endogenous and ectopic expression of noggin suggests a conserved mechanism for regulation of BMP function during limb and somite patterning. Dev. Biol. 197, 205-217 (1998).
6. Polymeropoulos, M.H., Poush, J., Rubenstein, J.R. & Francomano, C.A. Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22. Genomes 27, 225-229 (1995).
7. Kzakow, D. et al. Localization of a multiple synostoses-syndrome disease gene to chromosome 17q21-22. Am. J. Hum. Genet. 63, 120-124 (1998).
8. Polinkovsky, A. et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nature Genet. 17, 18-19 (1997).
9. Valenzuela, D.M. et al. Identification of mammalian noggin and its expression in the adult nervous system. J. Neurosci. 15, 6077-6084 (1995).
10. Strasburger, A.K., Hawkins, M.R., Eldridge, R., Hargrave, R.L. & McKusick, V.A. Symphalangism: genetic and clinical aspects. Bull. Johns Hopkins Hosp. 117, 108-127 (1965).
11. Park, J.P., Moeschler, J.B., Berg, S.Z., Bauer, R.M. & Wurster-Hill, D.H. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin. Genet. 41, 54-56 (1992).
12. Dallapiccola, B., Mingarelli, R., Digilio, C., Obregon, M.G. & Giannotti, A. Interstitial deletion del(17)(q21.3q23 or 24.2) syndrome. Clin. Genet. 43, 54-55 (1993).
13. Khalifa, M.M., MacLeod, P.M. & Duncan, A.M.V. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin. Genet. 44, 258-261 (1993).
14. Smith, W.C., Knecht, A.K., Wu, M. & Harland, R.M. Secreted noggin protein mimics the Spemann organizer in dorsalizing Xenopus mesoderm. Nature 361, 547-549 (1993).
15. Holley, S.A. et al. The Xenopus dorsalizing factor noggin ventralizes drosophila embryos by preventing DPP from activating its receptor. Cell 86, 607-617 (1996).
16. Nakamura, R. et al. Activin-binding protein from rat ovary is follistatin. Science 247, 836-838 (1990).
17. Piccolo, S., Yoshiki, S., Lu, B. & De Robertis, E-M. Dorsoventral patterning in Xenopus: inhibition of ventral signals by direct binding of chordin to BMP-4. Cell 86, 589-598 (1996).
18. Fainsod, A. et al. The dorsalizing and neural inducing gene follistatin is an antagonist of BMP-4. Mech. Dev. 63, 39-50 (1997).
19. Thomas, J.T. et al. Disruption of limb morphogenesis by a dominant negative mutation in CDMP1. Nature Genet. 17, 58-64 (1997).
20. Storm, E.E., et al. Limb alterations in brachypodism mice due to mutations in a new member of the TGF b-superfamily. Nature, 368, 693-643 (1994).
21. Witta, S.E., Agarwal, V.R. & Sato, S.M. XIPOU2, a noggin-inducible gene, has direct neuralizing activity. Development 121, 721-730 (1995).
22. de Kok, Y.J.M. et al. Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267, 685-688 (1995).
23. Ensink, R.J.H., Sleeckx, J.P. & Cremers, C.W.R.J. Proximal symphalangism and congenital conductive hearing loss; otological aspects. Am. J. Otol. (in press).
24. Cremers, C., Theunissen, E. & Kuijpers, W. Proximal symphalangism and stapes ankylosis. Arch. Otolaryngol. 111, 765-767 (1985).