A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

Y. Li; D. A. Lacerda; M. L. Warman; D. R. Beier; H. Yoshioka; Y. Ninomiya; J. T. Oxford; N. P. Morris; K. Andrikopoulos; F. Ramirez; B. B. Wardell; G. D. Lifferth; C. Teuscher; S. R. Woodward; B. A. Taylor; R. E. Seegmiller; B. R. Olsen

doi:10.1016/0092-8674(95)90492-1

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

Y. Li, D. A. Lacerda, M. L. Warman, D. R. Beier, H. Yoshioka, Y. Ninomiya, J. T. Oxford, N. P. Morris, K. Andrikopoulos, F. Ramirez, B. B. Wardell, G. D. Lifferth, C. Teuscher, S. R. Woodward, B. A. Taylor, R. E. Seegmiller, B. R. Olsen

Research output: Contribution to journal › Article › peer-review

328 Scopus citations

Abstract

Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the α1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of the translation initiation codon in cho α1(XI) mRNA causes a reading frame shift and introduces a premature stop codon. The data demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes is critially dependent on the presence of type XI collagen in cartilage extracellular matrix.

Original language	English
Pages (from-to)	423-430
Number of pages	8
Journal	Cell
Volume	80
Issue number	3
DOIs	https://doi.org/10.1016/0092-8674(95)90492-1
State	Published - 10 Feb 1995
Externally published	Yes

Keywords

Amino Acid Sequence
Animals
Animals, Newborn
Base Sequence
Bone Development/genetics
Bone and Bones/abnormalities
Cartilage/chemistry
Chromosome Mapping
Collagen/analysis
Crosses, Genetic
DNA Mutational Analysis
Genetic Linkage
Mice
Mice, Inbred C57BL
Mice, Inbred DBA
Molecular Sequence Data
Morphogenesis
Osteochondrodysplasias/genetics
RNA, Messenger/biosynthesis
Sequence Deletion/genetics

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10.1016/0092-8674(95)90492-1

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Li, Y., Lacerda, D. A., Warman, M. L., Beier, D. R., Yoshioka, H., Ninomiya, Y., Oxford, J. T., Morris, N. P., Andrikopoulos, K., Ramirez, F., Wardell, B. B., Lifferth, G. D., Teuscher, C., Woodward, S. R., Taylor, B. A., Seegmiller, R. E., & Olsen, B. R. (1995). A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell, 80(3), 423-430. https://doi.org/10.1016/0092-8674(95)90492-1

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title = "A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis",

abstract = "Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the α1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of the translation initiation codon in cho α1(XI) mRNA causes a reading frame shift and introduces a premature stop codon. The data demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes is critially dependent on the presence of type XI collagen in cartilage extracellular matrix.",

keywords = "Amino Acid Sequence, Animals, Animals, Newborn, Base Sequence, Bone Development/genetics, Bone and Bones/abnormalities, Cartilage/chemistry, Chromosome Mapping, Collagen/analysis, Crosses, Genetic, DNA Mutational Analysis, Genetic Linkage, Mice, Mice, Inbred C57BL, Mice, Inbred DBA, Molecular Sequence Data, Morphogenesis, Osteochondrodysplasias/genetics, RNA, Messenger/biosynthesis, Sequence Deletion/genetics",

author = "Y. Li and Lacerda, {D. A.} and Warman, {M. L.} and Beier, {D. R.} and H. Yoshioka and Y. Ninomiya and Oxford, {J. T.} and Morris, {N. P.} and K. Andrikopoulos and F. Ramirez and Wardell, {B. B.} and Lifferth, {G. D.} and C. Teuscher and Woodward, {S. R.} and Taylor, {B. A.} and Seegmiller, {R. E.} and Olsen, {B. R.}",

year = "1995",

month = feb,

day = "10",

doi = "10.1016/0092-8674(95)90492-1",

language = "English",

volume = "80",

pages = "423--430",

journal = "Cell",

issn = "0092-8674",

publisher = "Elsevier B.V.",

number = "3",

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Li, Y, Lacerda, DA, Warman, ML, Beier, DR, Yoshioka, H, Ninomiya, Y, Oxford, JT, Morris, NP, Andrikopoulos, K, Ramirez, F, Wardell, BB, Lifferth, GD, Teuscher, C, Woodward, SR, Taylor, BA, Seegmiller, RE & Olsen, BR 1995, 'A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis', Cell, vol. 80, no. 3, pp. 423-430. https://doi.org/10.1016/0092-8674(95)90492-1

TY - JOUR

T1 - A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

AU - Li, Y.

AU - Lacerda, D. A.

AU - Warman, M. L.

AU - Beier, D. R.

AU - Yoshioka, H.

AU - Ninomiya, Y.

AU - Oxford, J. T.

AU - Morris, N. P.

AU - Andrikopoulos, K.

AU - Ramirez, F.

AU - Wardell, B. B.

AU - Lifferth, G. D.

AU - Teuscher, C.

AU - Woodward, S. R.

AU - Taylor, B. A.

AU - Seegmiller, R. E.

AU - Olsen, B. R.

PY - 1995/2/10

Y1 - 1995/2/10

N2 - Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the α1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of the translation initiation codon in cho α1(XI) mRNA causes a reading frame shift and introduces a premature stop codon. The data demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes is critially dependent on the presence of type XI collagen in cartilage extracellular matrix.

AB - Mice that are homozygous for the autosomal recessive chondrodysplasia (cho) mutation die at birth with abnormalities in cartilage of limbs, ribs, mandible, and trachea. Limb bones of newborn cho/cho mice are wider at the metaphyses than normal bones and only about half the normal length. By linkage analysis, the cho gene and the gene encoding the α1 (XI) chain of cartilage collagen XI were mapped to the same region of chromosome 3. Deletion of a cytidine residue about 570 nt downstream of the translation initiation codon in cho α1(XI) mRNA causes a reading frame shift and introduces a premature stop codon. The data demonstrate that collagen XI is essential for normal formation of cartilage collagen fibrils and the cohesive properties of cartilage. The results also suggest that the normal differentiation and spatial organization of growth plate chondrocytes is critially dependent on the presence of type XI collagen in cartilage extracellular matrix.

KW - Amino Acid Sequence

KW - Animals

KW - Animals, Newborn

KW - Base Sequence

KW - Bone Development/genetics

KW - Bone and Bones/abnormalities

KW - Cartilage/chemistry

KW - Chromosome Mapping

KW - Collagen/analysis

KW - Crosses, Genetic

KW - DNA Mutational Analysis

KW - Genetic Linkage

KW - Mice

KW - Mice, Inbred C57BL

KW - Mice, Inbred DBA

KW - Molecular Sequence Data

KW - Morphogenesis

KW - Osteochondrodysplasias/genetics

KW - RNA, Messenger/biosynthesis

KW - Sequence Deletion/genetics

UR - http://www.scopus.com/inward/record.url?scp=0028815297&partnerID=8YFLogxK

U2 - 10.1016/0092-8674(95)90492-1

DO - 10.1016/0092-8674(95)90492-1

M3 - Article

C2 - 7859283

AN - SCOPUS:0028815297

SN - 0092-8674

VL - 80

SP - 423

EP - 430

JO - Cell

JF - Cell

IS - 3

ER -

A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis

Abstract

Keywords

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