DOI: 10.1086/302933. Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)

10.1086/302933

Crossref journal-article

Elsevier BV

The American Journal of Human Genetics (78)

Bibliography

Schwarze, U., Atkinson, M., Hoffman, G. G., Greenspan, D. S., & Byers, P. H. (2000). Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II). The American Journal of Human Genetics, 66(6), 1757â1765.

Authors 5

Ulrike Schwarze (first)
Mary Atkinson (additional)
Guy G. Hoffman (additional)
Daniel S. Greenspan (additional)
Peter H. Byers (additional)

References 48 Referenced 110

{'key': '10.1086/302933_bib1', 'series-title': "McKusick's heritable disorders of connective tissue", 'first-page': '189', 'article-title': 'The Ehlers-Danlos syndromes', 'author': 'Beighton', 'year': '1993'} / McKusick's heritable disorders of connective tissue / The Ehlers-Danlos syndromes by Beighton (1993)
10.1002/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O / Am J Med Genet / Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers- Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK) by Beighton (1998)
10.1083/jcb.106.3.999 / J Cell Biol / Collagen type I and type V are present in the same fibril in the avian corneal stroma by Birk (1988)
10.1016/S0021-9258(18)89655-7 / J Biol Chem / Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta by Bonadio (1985)
10.1038/ng0997-104 / Nat Genet / Tenascin-X deficiency is associated with Ehlers-Danlos syndrome by Burch (1997)
10.1086/301948 / Am J Hum Genet / A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British families by Burrows (1998)
10.1111/1523-1747.ep12348978 / J Invest Dermatol / The gene encoding collagen α1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II by Burrows (1996)
10.1111/j.1365-2230.1997.tb01055.x / Clin Exp Dermatol / Genetic linkage to the collagen α1(V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes by Burrows (1997)
10.1007/BF00223882 / Hum Genet / A new biallelic DNA polymorphism of the human COL5A1 gene by Cappa (1995)
{'key': '10.1086/302933_bib10', 'first-page': '547', 'article-title': 'Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II', 'volume': '60', 'author': 'De Paepe', 'year': '1997', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II by De Paepe (1997)
10.1073/pnas.82.10.3385 / Proc Natl Acad Sci USA / Human α1(III) and α2(V) procollagen genes are located on the long arm of chromosome 2 by Emanuel (1985)
{'key': '10.1086/302933_bib12', 'series-title': 'Structure and function of collagen types', 'first-page': '81', 'article-title': 'Type V collagen', 'author': 'Fessler', 'year': '1987'} / Structure and function of collagen types / Type V collagen by Fessler (1987)
10.1093/hmg/8.10.1893 / Hum Mol Genet / Nonsense-mediated mRNA decay in health and disease by Frischmeyer (1999)
10.1136/ard.28.3.246 / Ann Rheum Dis / Physical properties of the skin in the Ehlers-Danlos syndrome by Grahame (1969)
10.1016/S0021-9258(18)54290-3 / J Biol Chem / The pro-α1(V) collagen chain. Complete primary structure, distribution of expression, and comparison with the pro-α1(XI) collagen chain by Greenspan (1991)
10.1016/0888-7543(95)80021-D / Genomics / COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos syndrome type II by Greenspan (1995)
10.1093/hmg/3.2.385-a / Hum Mol Genet / BstUI and DpnII RFLPs at the COL5A1 gene by Greenspan (1994)
10.1073/pnas.77.9.5206 / Proc Natl Acad Sci USA / Chinese hamster lung cells synthesize and confine to the cellular domain a collagen composed solely of B chains by Haralson (1980)
10.1111/j.1432-1033.1988.tb14087.x / Eur J Biochem / Existence of malfunctioning pro α2(I) collagen genes in a patient with a pro α2(I)-chain-defective variant of Ehlers-Danlos syndrome by Hata (1988)
10.1007/BF00201664 / Hum Genet / Differential ultrastructural aberrations of collagen fibrils in Ehlers-Danlos syndrome types I-IV as a means of diagnostics and classification by Hausser (1994)
10.1002/ajmg.1320340118 / Am J Med Genet / Skin is a window on heritable disorders of connective tissue by Holbrook (1989)
10.1073/pnas.77.11.6434 / Proc Natl Acad Sci USA / Biosynthesis of A,B procollagen by Kumamoto (1980)
10.1083/jcb.121.5.1181 / J Cell Biol / Type V collagen: molecular structure and fibrillar organization of the chicken α1(V) NH2-terminal domain, a putative regulator of corneal fibrillogenesis by Linsenmayer (1993)
10.1093/hmg/4.9.1649 / Hum Mol Genet / Linkage of the gene that encodes the α1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II) by Loughlin (1995)
{'key': '10.1086/302933_bib25', 'first-page': '453', 'article-title': 'When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells', 'volume': '1', 'author': 'Maquat', 'year': '1995', 'journal-title': 'RNA'} / RNA / When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells by Maquat (1995)
10.1093/hmg/7.9.1491 / Hum Mol Genet / Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA by McCarthy (1998)
10.1128/MCB.17.8.4562 / Mol Cell Biol / G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection by McCullough (1997)
10.1093/hmg/7.2.249 / Hum Mol Genet / Mutations of the α2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I by Michalickova (1998)
10.1111/j.1432-1033.1994.tb18815.x / Eur J Biochem / Diversity in the processing events at the N-terminus of type-V collagen by Moradi-Ameli (1994)
{'key': '10.1086/302933_bib30', 'first-page': 'A233', 'article-title': 'Molecular abnormalities of type V collagen in Ehlers-Danlos syndrome', 'volume': '55', 'author': 'Nicholls', 'year': '1994', 'journal-title': 'Am J Hum Genet Suppl'} / Am J Hum Genet Suppl / Molecular abnormalities of type V collagen in Ehlers-Danlos syndrome by Nicholls (1994)
10.1136/jmg.33.11.940 / J Med Genet / An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome by Nicholls (1996)
10.1016/S0021-9258(18)89872-6 / J Biol Chem / Human placenta type V collagens: evidence for the existence of an α1(V) α2(V) α3(V) collagen molecule by Niyibizi (1984)
10.1016/S0174-173X(81)80010-6 / Coll Relat Res / Evidence for the existence of an α1(V)α2(V)α3(V) collagen molecule in human placental tissue by Rhodes (1981)
10.1136/jmg.35.10.846 / J Med Genet / A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II by Richards (1998)
{'key': '10.1086/302933_bib35', 'series-title': 'Molecular cloning: a laboratory manual', 'author': 'Sambrook', 'year': '1989'} / Molecular cloning: a laboratory manual by Sambrook (1989)
10.1001/archderm.1987.01660250082024 / Arch Dermatol / Ehlers-Danlos syndrome: a variant characterized by the deficiency of proα 2 chain of type I procollagen by Sasaki (1987)
10.1086/302512 / Am J Hum Genet / Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation by Schwarze (1999)
{'key': '10.1086/302933_bib38', 'first-page': '235', 'article-title': 'Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen', 'volume': '51', 'author': 'Smith', 'year': '1992', 'journal-title': 'Am J Hum Genet'} / Am J Hum Genet / Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen by Smith (1992)
10.1007/BF00206058 / Hum Genet / Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family by Sokolov (1991)
{'key': '10.1086/302933_bib40', 'series-title': 'Connective tissue and its heritable disorders: molecular, genetic and medical aspects', 'first-page': '351', 'article-title': 'The Ehlers-Danlos syndrome', 'author': 'Steinmann', 'year': '1993'} / Connective tissue and its heritable disorders: molecular, genetic and medical aspects / The Ehlers-Danlos syndrome by Steinmann (1993)
10.1006/geno.1995.9961 / Genomics / Complete structural organization of the human α1(V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes by Takahara (1995)
10.1038/ng0796-361 / Nat Genet / A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito by Toriello (1996)
10.3109/03008209309061966 / Connect Tissue Res / Pro-α2(V) collagen gene; pairwise analysis of the amino-propeptide coding domain, and cross-species comparison of the promoter sequence by Truter (1993)
{'key': '10.1086/302933_bib43', 'first-page': '201', 'article-title': 'Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome', 'volume': '40', 'author': 'Vogel', 'year': '1979', 'journal-title': 'Lab Invest'} / Lab Invest / Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome by Vogel (1979)
10.1093/nar/15.1.181 / Nucleic Acids Res / The proα2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens by Weil (1987)
10.1093/hmg/5.11.1733 / Hum Mol Genet / A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of proα1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I) by Wenstrup (1996)
10.1093/rheumatology/30.3.173 / Br J Rheumatol / Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome by Wordsworth (1991)
10.1136/ard.44.7.431 / Ann Rheum Dis / Exclusion of the α1(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome by Wordsworth (1985)

Dates

Type	When
Created	23 years, 1 month ago (July 26, 2002, 2:47 p.m.)
Deposited	4 years, 3 months ago (May 17, 2021, 2:22 a.m.)
Indexed	11 months, 3 weeks ago (Sept. 16, 2024, 5:05 p.m.)
Issued	25 years, 3 months ago (June 1, 2000)
Published	25 years, 3 months ago (June 1, 2000)
Published Print	25 years, 3 months ago (June 1, 2000)

Funders 0

None

BibTeX

@article{Schwarze_2000, title={Null Alleles of the COL5A1 Gene of Type V Collagen Are a Cause of the Classical Forms of Ehlers-Danlos Syndrome (Types I and II)}, volume={66}, ISSN={0002-9297}, url={http://dx.doi.org/10.1086/302933}, DOI={10.1086/302933}, number={6}, journal={The American Journal of Human Genetics}, publisher={Elsevier BV}, author={Schwarze, Ulrike and Atkinson, Mary and Hoffman, Guy G. and Greenspan, Daniel S. and Byers, Peter H.}, year={2000}, month=jun, pages={1757–1765} }

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      "author": "Burrows",
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      "volume": "266",
      "author": "Greenspan",
      "year": "1991",
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      "journal-title": "Hum Genet"
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      "volume": "121",
      "author": "Linsenmayer",
      "year": "1993",
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      "volume": "4",
      "author": "Loughlin",
      "year": "1995",
      "journal-title": "Hum Mol Genet"
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      "article-title": "When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells",
      "volume": "1",
      "author": "Maquat",
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      "article-title": "Characterization of an intron splice enhancer that regulates alternative splicing of human GH pre-mRNA",
      "volume": "7",
      "author": "McCarthy",
      "year": "1998",
      "journal-title": "Hum Mol Genet"
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      "article-title": "G triplets located throughout a class of small vertebrate introns enforce intron borders and regulate splice site selection",
      "volume": "17",
      "author": "McCullough",
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      "article-title": "Mutations of the \u03b12(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I",
      "volume": "7",
      "author": "Michalickova",
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      "first-page": "987",
      "DOI": "10.1111/j.1432-1033.1994.tb18815.x",
      "article-title": "Diversity in the processing events at the N-terminus of type-V collagen",
      "volume": "221",
      "author": "Moradi-Ameli",
      "year": "1994",
      "journal-title": "Eur J Biochem"
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    {
      "key": "10.1086/302933_bib30",
      "first-page": "A233",
      "article-title": "Molecular abnormalities of type V collagen in Ehlers-Danlos syndrome",
      "volume": "55",
      "author": "Nicholls",
      "year": "1994",
      "journal-title": "Am J Hum Genet Suppl"
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      "DOI": "10.1136/jmg.33.11.940",
      "article-title": "An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome",
      "volume": "33",
      "author": "Nicholls",
      "year": "1996",
      "journal-title": "J Med Genet"
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      "first-page": "14170",
      "DOI": "10.1016/S0021-9258(18)89872-6",
      "article-title": "Human placenta type V collagens: evidence for the existence of an \u03b11(V) \u03b12(V) \u03b13(V) collagen molecule",
      "volume": "259",
      "author": "Niyibizi",
      "year": "1984",
      "journal-title": "J Biol Chem"
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      "first-page": "337",
      "DOI": "10.1016/S0174-173X(81)80010-6",
      "article-title": "Evidence for the existence of an \u03b11(V)\u03b12(V)\u03b13(V) collagen molecule in human placental tissue",
      "volume": "1",
      "author": "Rhodes",
      "year": "1981",
      "journal-title": "Coll Relat Res"
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      "first-page": "846",
      "DOI": "10.1136/jmg.35.10.846",
      "article-title": "A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II",
      "volume": "35",
      "author": "Richards",
      "year": "1998",
      "journal-title": "J Med Genet"
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    {
      "key": "10.1086/302933_bib35",
      "series-title": "Molecular cloning: a laboratory manual",
      "author": "Sambrook",
      "year": "1989"
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      "key": "10.1086/302933_bib36",
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      "first-page": "76",
      "DOI": "10.1001/archderm.1987.01660250082024",
      "article-title": "Ehlers-Danlos syndrome: a variant characterized by the deficiency of pro\u03b1 2 chain of type I procollagen",
      "volume": "123",
      "author": "Sasaki",
      "year": "1987",
      "journal-title": "Arch Dermatol"
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      "first-page": "336",
      "DOI": "10.1086/302512",
      "article-title": "Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation",
      "volume": "65",
      "author": "Schwarze",
      "year": "1999",
      "journal-title": "Am J Hum Genet"
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      "key": "10.1086/302933_bib38",
      "first-page": "235",
      "article-title": "Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen",
      "volume": "51",
      "author": "Smith",
      "year": "1992",
      "journal-title": "Am J Hum Genet"
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      "DOI": "10.1007/BF00206058",
      "article-title": "Exclusion of COL1A1, COL1A2, and COL3A1 genes as candidate genes for Ehlers-Danlos syndrome type I in one large family",
      "volume": "88",
      "author": "Sokolov",
      "year": "1991",
      "journal-title": "Hum Genet"
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    {
      "key": "10.1086/302933_bib40",
      "series-title": "Connective tissue and its heritable disorders: molecular, genetic and medical aspects",
      "first-page": "351",
      "article-title": "The Ehlers-Danlos syndrome",
      "author": "Steinmann",
      "year": "1993"
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      "key": "10.1086/302933_bib700",
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      "first-page": "588",
      "DOI": "10.1006/geno.1995.9961",
      "article-title": "Complete structural organization of the human \u03b11(V) collagen gene (COL5A1): divergence from the conserved organization of other characterized fibrillar collagen genes",
      "volume": "29",
      "author": "Takahara",
      "year": "1995",
      "journal-title": "Genomics"
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      "first-page": "361",
      "DOI": "10.1038/ng0796-361",
      "article-title": "A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito",
      "volume": "13",
      "author": "Toriello",
      "year": "1996",
      "journal-title": "Nat Genet"
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    {
      "key": "10.1086/302933_bib42",
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      "first-page": "51",
      "DOI": "10.3109/03008209309061966",
      "article-title": "Pro-\u03b12(V) collagen gene; pairwise analysis of the amino-propeptide coding domain, and cross-species comparison of the promoter sequence",
      "volume": "29",
      "author": "Truter",
      "year": "1993",
      "journal-title": "Connect Tissue Res"
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    {
      "key": "10.1086/302933_bib43",
      "first-page": "201",
      "article-title": "Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome",
      "volume": "40",
      "author": "Vogel",
      "year": "1979",
      "journal-title": "Lab Invest"
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    {
      "key": "10.1086/302933_bib44",
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      "first-page": "181",
      "DOI": "10.1093/nar/15.1.181",
      "article-title": "The pro\u03b12(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens",
      "volume": "15",
      "author": "Weil",
      "year": "1987",
      "journal-title": "Nucleic Acids Res"
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      "first-page": "1733",
      "DOI": "10.1093/hmg/5.11.1733",
      "article-title": "A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro\u03b11(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I)",
      "volume": "5",
      "author": "Wenstrup",
      "year": "1996",
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      "DOI": "10.1093/rheumatology/30.3.173",
      "article-title": "Segregation analysis of the structural genes of the major fibrillar collagens provides further evidence of molecular heterogeneity in type II Ehlers-Danlos syndrome",
      "volume": "30",
      "author": "Wordsworth",
      "year": "1991",
      "journal-title": "Br J Rheumatol"
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      "first-page": "431",
      "DOI": "10.1136/ard.44.7.431",
      "article-title": "Exclusion of the \u03b11(II) collagen structural gene as the mutant locus in type II Ehlers-Danlos syndrome",
      "volume": "44",
      "author": "Wordsworth",
      "year": "1985",
      "journal-title": "Ann Rheum Dis"
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