Bone Dysplasia Sclerosteosis Results from Loss of the SOST Gene Product, a Novel Cystine Knot–Containing Protein

The American Journal of Human Genetics - Tập 68 Số 3 - Trang 577-589 - 2001
Mary E. Brunkow1, Jessica C. Gardner2, Jeff Van Ness1, Bryan Paeper1, Brian R. Kovacevich1, Sean Proll1, John E. Skonier1, Lei Zhao1, Peter J. Sabo1, Ying‐Hui Fu1, Reid S. Alisch1, Lucille Gillett1, Trenton Colbert1, Paolo Tacconi3, David J. Galas1, Herman A. Hamersma4, Peter Beighton2, J T Mulligan1
1Celltech Inc., Bothell, WA;
2Department of Human Genetics, University of Cape Town Medical School, Observatory, South Africa
3Istituto di Neurologia, Universita di Cagliari, Italy; and
4Otolaryngologist, Florida Park, Roodepoort, South Africa

Tóm tắt

Từ khóa


Tài liệu tham khảo

Balemans, 1999, Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21, Am J Hum Genet, 64, 1661, 10.1086/302416

Beighton, 1988, Sclerosteosis, J Med Genet, 25, 200, 10.1136/jmg.25.3.200

Beighton, 1984, The syndromic status of sclerosteosis and van Buchem disease, Clin Genet, 25, 175, 10.1111/j.1399-0004.1984.tb00481.x

Beighton, 1977, Sclerosteosis—an autosomal recessive disorder, Clin Genet, 11, 1, 10.1111/j.1399-0004.1977.tb01269.x

Beighton, 1976, The clinical features of sclerosteosis: a review of the manifestations in twenty-five affected individuals, Ann Intern Med, 84, 393, 10.7326/0003-4819-84-4-393

Beighton P, Gardner J, Hamersma H, Fu Y-H, Alisch R, Mulligan J (1999) Syndromic status of sclerosteosis and van Buchem disease. Paper presented at 8th Biennial Southern African Society of Human Genetics Congress, Gordon's Bay, March 9-12, 1999

Beighton, 1979, Sclerosteosis in South Africa, S Afr Med J, 55, 783

Belo, 1997, Cerberus-like is a secreted factor with neuralizing activity expressed in the anterior primitive endoderm of the mouse gastrula, Mech Dev, 68, 45, 10.1016/S0925-4773(97)00125-1

Biben, 1998, Murine cerberus homologue mCer-1: a candidate anterior patterning molecule, Dev Biol, 194, 135, 10.1006/dbio.1997.8812

Bueno, 1994, Sclerosteosis in a Spanish male: first report in a person of Mediterranean origin, J Med Genet, 31, 976, 10.1136/jmg.31.12.976

Burge, 1997, Prediction of complete gene structures in human genomic DNA, J Mol Biol, 268, 78, 10.1006/jmbi.1997.0951

Cottingham, 1993, Faster sequential genetic linkage computations, Am J Hum Genet, 53, 252

Cox, 1998, Molecular basis of an apolipoprotein[a] null allele: a splice site mutation is associated with deletion of a single exon, J Lipid Res, 39, 1319, 10.1016/S0022-2275(20)32512-8

Dib, 1996, A comprehensive genetic map of the human genome based on 5,264 microsatellites, Nature, 380, 152, 10.1038/380152a0

Dixon, 1982, Two cases of van Buchem's disease, J Neurol Neurosurg Psychiatry, 45, 913, 10.1136/jnnp.45.10.913

Epstein, 1979, Endocrine function in sclerosteosis, S Afr Med J, 55, 1105

Freire de Paes Alves, 1982, Sclerosteosis: a marker of Dutch ancestry?, Rev Brasil Genet, 5, 825

Frischmeyer, 1999, Nonsense-mediated mRNA decay in health and disease, Hum Mol Genet, 8, 1893, 10.1093/hmg/8.10.1893

Fryns, 1988, Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis), Eur J Pediatr, 147, 99, 10.1007/BF00442624

Gardner J (1999) Profound childhood deafness in South Africa: a clinical and molecular genetic approach. Ph.D. thesis, University of Cape Town, Cape Town

Gentry, 1988, Molecular events in the processing of recombinant type 1 pre-pro-transforming growth factor beta to the mature polypeptide, Mol Cell Biol, 8, 4162, 10.1128/MCB.8.10.4162

Harland, 1997, Formation and function of Spemann's organizer, Annu Rev Cell Dev Biol, 13, 611, 10.1146/annurev.cellbio.13.1.611

Hausen, 1967, Sklerosteose, Vol. 6, 351

Hentze, 1999, A perfect message: RNA surveillance and nonsense-mediated decay, Cell, 96, 307, 10.1016/S0092-8674(00)80542-5

Higinbotham, 1941, Osteopetrosis, four cases in one family, Am J Surg, 53, 444, 10.1016/S0002-9610(41)90660-8

Hogan, 1996, Bone morphogenetic proteins: multi-functional regulators of vertebrate development, Genes Dev, 10, 1580, 10.1101/gad.10.13.1580

Hsu, 1998, The Xenopus dorsalizing factor Gremlin identifies a novel family of secreted proteins that antagonize BMP activities, Mol Cell, 1, 673, 10.1016/S1097-2765(00)80067-2

Isaacs, 1995, Cystine knots, Curr Opin Struct Biol, 5, 391, 10.1016/0959-440X(95)80102-2

Janssens, 2000, Mutations in the gene encoding the latency-associated peptide of TGFβ1 cause Camurati-Engelmann disease, Nat Genet, 26, 273, 10.1038/81563

Kinoshita, 2000, Domain-specific mutations in TGFβ1 result in Camurati-Engelmann disease, Nat Genet, 26, 19, 10.1038/79128

Lander, 1987, Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children, Science, 236, 1567, 10.1126/science.2884728

Lathrop, 1984, Easy calculations of Lod scores and genetic risks on small computers, Am J Hum Genet, 36, 460

Lunetta, 1996, Selected locus and multiple panel models for radiation hybrid mapping, Am J Hum Genet, 59, 717

McDonald, 1993, A structural superfamily of growth factors containing a cystine knot motif, Cell, 73, 421, 10.1016/0092-8674(93)90127-C

Meitinger, 1993, Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure, Nat Genet, 5, 376, 10.1038/ng1293-376

Nakamura, 1997, A product of DAN, a novel candidate tumour suppressor gene, is secreted into culture medium and suppresses DNA synthesis, Eur J Cancer, 33, 1986, 10.1016/S0959-8049(97)00333-X

Pearce, 1999, A mouse cerberus/Dan-related gene family, Dev Biol, 209, 98, 10.1006/dbio.1999.9240

Peitruschka, 1958, Weitere Mitteilungen über die Marmorknochenkrankheit (Albers-Schonbergsche Krankheit) nebst Bemerkungen zur Differentialdiagnose, Klin Monatbl, 132, 509

Rodan, 2000, Therapeutic approaches to bone disease, Science, 289, 1508, 10.1126/science.289.5484.1508

Sakou, 1998, Bone morphogenetic proteins: from basic studies to clinical approaches, Bone, 22, 591, 10.1016/S8756-3282(98)00053-2

Sasai, 1997, Ectodermal patterning in vertebrate embryos, Dev Biol, 182, 5, 10.1006/dbio.1996.8445

Schäffer, 1994, Avoiding recomputation in linkage analysis, Hum Hered, 44, 225, 10.1159/000154222

Sugiura, 1975, Sclerosteosis: a case report, J Bone Surg (Am), 57, 273, 10.2106/00004623-197557020-00026

Stein, 1983, Sclerosteosis: neurogenetic and pathophysiologic analysis of an American kinship, Neurology, 33, 267, 10.1212/WNL.33.3.267

Tacconi, 1998, Sclerosteosis: report of a case in a black African man, Clin Genet, 53, 497, 10.1111/j.1399-0004.1998.tb02603.x

Teraoka, 1999, Splicing defects in the ataxia-telangiectasia gene, ATM: underlying mutations and consequences, Am J Hum Genet, 64, 1617, 10.1086/302418

Urist, 1965, Bone: formation by autoinduction, Science, 150, 893, 10.1126/science.150.3698.893

van Buchem, 1976

van Hul, 1998, van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21, Am J Hum Genet, 62, 391, 10.1086/301721

Wang, 1997, Homozygosity and linkage disequilibrium mapping of the urofacial (Ochoa) syndrome gene to a 1-cM interval on chromosome 10q23-q24, Am J Hum Genet, 60, 1461, 10.1086/515469

Wildenberg, 1995, A gene causing Hermansky-Pudlak syndrome in a Puerto Rican population maps to chromosome 10q, Am J Hum Genet, 57, 755