Insight into Schmid metaphyseal chondrodysplasia from the crystal structure of the collagen X NC1 domain trimer

Structure

Volumn 10, Issue 2, 2002, Pages 165-173

  Bogin, Oren ^a   Kvansakul, Marc ^b   Rom, Eran ^a   Singer, Josef ^a   Yayon, Avner ^a   Hohenester, Erhard ^b  

^a ProChon Biotech Ltd   (Israel)

^b IMPERIAL COLLEGE LONDON   (United Kingdom)

Author keywords

C1q like domain; Calcium binding; Collagen X; Detergent binding; Genetic disorder; NC1 domain

Indexed keywords

CALCIUM ION; COLLAGEN TYPE 10;

AMINO ACID SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHONDRODYSPLASIA; CONTROLLED STUDY; CRYSTAL STRUCTURE; GENE MUTATION; GROWTH PLATE; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FOLDING;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; BINDING SITES; CALCIUM; COLLAGEN TYPE X; CRYSTALLOGRAPHY, X-RAY; EXOSTOSES, MULTIPLE HEREDITARY; HUMANS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PROTEIN BINDING; PROTEIN STRUCTURE, QUATERNARY; PROTEIN STRUCTURE, TERTIARY; PROTEIN SUBUNITS; SEQUENCE HOMOLOGY, AMINO ACID; SOLVENTS; STRUCTURE-ACTIVITY RELATIONSHIP; SURFACE PROPERTIES;

EID: 0036175281     PISSN: 09692126     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0969-2126(02)00697-4     Document Type: Article

References (41)

1. A short chain (pro)collagen from aged endochondral chondrocytes
2. Immunohistochemical localization of short chain cartilage collagen (type X) in avian tissues
3. Type X collagen, a product of hypertrophic chondrocytes
4. Type X collagen synthesis by chick sternal cartilage and its relationship to endochondral development
5. Type X collagen synthesis during endochondral ossification in fracture repair
6. Type X collagen synthesis in human osteoarthritic cartilage. Indication of chondrocyte hypertrophy
7. The human collagen X gene. Complete primary translated sequence and chromosome location
8. Genomic organization and full-length cDNA sequence of human collagen X
9. The fibrillar collagens, collagen VIII, collagen X and the C1q complement proteins share a similar domain in their C-terminal non-collagenous regions
10. Type VIII collagen
11. Characterization of human type X procollagen and its NC-1 domain expressed as recombinant proteins in HEK293 cells
12. Metaphyseal chondrodysplasia type Schmid mutations are predicted to occur in two distinct three-dimensional clusters within type X collagen NC1 domains that retain the ability to trimerize
13. Schmid's metaphyseal chondrodysplasia mutations interfere with folding of the C-terminal domain of human collagen X expressed in Escherichia coli
14. The noncollagenous domain 1 of type X collagen. A novel motif for trimer and higher order multimer formation without a triple helix
15. Characterization of the collagen in the hexagonal lattice of Descemet's membrane: Its relation to type VIII collagen
16. Macromolecular organisation of chicken type X collagen in vitro
17. Phenotypic and biochemical consequences of collagen X mutations in mice and humans
18. A type X collagen mutation causes Schmid metaphyseal chondrodysplasia
19. Spondylometaphyseal dysplasia in mice carrying a dominant negative mutation in a matrix protein specific for cartilage-to-bone transition
20. Normal long bone growth and development in type X collagen-null mice
21. Abnormal compartmentalization of cartilage matrix components in mice lacking collagen X: Implications for function
22. Growth plate compressions and altered hematopoiesis in collagen X null mice
23. Type X collagen multimer assembly in vitro is prevented by a Gly618 to Val mutation in the α1(X) NC1 domain resulting in Schmid metaphyseal chondrodysplasia
24. Site-directed mutagenesis of human type X collagen. Expression of α1(X) NC1, NC2, and helical mutations in vitro and in transfected cells
25. Interactions of collagen α1(X) containing engineered NC1 mutations with normal α1(X) in vitro. Implications for the molecular basis of Schmid metaphyseal chondrodysplasia
26. Folding and assembly of type X collagen mutants that cause metaphyseal chondrodysplasia-type Schmid. Evidence for co-assembly of the mutant and wild-type chains and binding to molecular chaperones
27. The crystal structure of a complement-1q family protein suggests an evolutionary link to tumour necrosis factor
28. Calcium-binding sites in proteins: A structural perspective
29. 2+ binding properties of type X collagen
30. Crystal structure of the soluble human 55 kd TNF receptor-human TNFβ complex: Implications for TNF receptor activation
31. Arginine residues of the globular region of human C1q involved in the interaction with immunoglobulin G
32. Aberrant signal peptide cleavage of collagen X in Schmid metaphyseal chondrodysplasia. Implications for the molecular basis of disease
33. A nonsense mutation in the carboxy-terminal domain of type X collagen causes haploinsufficiency in Schmid metaphyseal chondrodysplasia
34. Molecular cloning, nucleotide sequence, and expression of the genes encoding alcohol dehydrogenases from the extreme thermophile Thermoanaerobacter brockii and the mesophile Clostridium beijerinckii
35. The CCP4 suite: Programs for protein crystallography
36. AMoRe: An automated package for molecular replacement
37. Improved methods for building protein models in electron density maps and the location of errors in these models
38. Crystallography & NMR system: A new software suite for macromolecular structure determination
39. An extensively modified version of MOLSCRIPT which includes greatly enhanced colouring facilities
40. Raster3D: Photorealistic molecular graphics