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Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.

作者信息

Nicholls A C, Oliver J, Renouf D V, McPheat J, Palan A, Pope F M

机构信息

Dermatology Research Group, Clinical Research Centre, Harrow, UK.

出版信息

Hum Genet. 1991 Jun;87(2):193-8. doi: 10.1007/BF00204180.

DOI:10.1007/BF00204180
PMID:1712342
Abstract

We have examined the procollagens and collagens produced by skin fibroblasts from a patient with Ehlers-Danlos syndrome type VII. The patient was heterozygous for an abnormal alpha 2(I) chain migrating with the approximate size of pN alpha 2(I) chains after pepsin digestion. Peptide mapping suggested that the abnormality was located at the amino-terminus of the alpha 2(I) chain. Quantitative analysis of the alpha 2(I) mRNA indicated loss of the exon 6 sequences, and subsequent polymerase chain reaction amplification of cDNA demonstrated a deletion of the 54 bp of exon 6 from some of the alpha 2(I) mRNA. Analysis of genomic DNA from the patient revealed a single base change in one COL1A2 allele, substituting an A for a G as the first base of intron 6. This change mutates the obligate GT-dinulceotide splicing signal to AT and leads to exon skipping with splicing from exon 5 to exon 7. Loss of exon 6 sequences results in the loss of the procollagen-N-propeptidase cleavage site and a lysine residue that normally participates in covalent intermolecular crosslinking within collagen fibres.

摘要

相似文献

1
Ehlers-Danlos syndrome type VII: a single base change that causes exon skipping in the type I collagen alpha 2(I) chain.
Hum Genet. 1991 Jun;87(2):193-8. doi: 10.1007/BF00204180.
2
A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII.在一名患有VII型埃勒斯-当洛综合征的患者中，COL1A2基因第5内含子剪接受体位点的碱基替换激活了外显子6内的一个隐蔽剪接位点，并产生了异常的I型前胶原。
J Biol Chem. 1992 Mar 25;267(9):6361-9.
3
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant.在一种埃勒斯-当洛综合征变体中鉴定出一种在胶原蛋白前体mRNA剪接过程中导致外显子跳跃的突变。
J Biol Chem. 1988 Jun 25;263(18):8561-4.
4
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV.IV型埃勒斯-当洛综合征患者中，COL3A1基因剪接位点的碱基替换导致外显子跳跃并产生异常的III型前胶原。
J Biol Chem. 1990 Oct 5;265(28):17070-7.
5
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype.VII型埃勒斯-当洛综合征中I型前胶原的原α2（I）基因（COL1A2）突变：有证据表明RNA剪接中外显子6的跳跃可能是该表型的常见原因。
Am J Hum Genet. 1991 Feb;48(2):305-17.
6
Ehlers-Danlos syndrome type VII: phenotype and genotype.VII型埃勒斯-当洛综合征：表型与基因型
Arch Dermatol Res. 1994;286(8):425-8. doi: 10.1007/BF00371566.
7
Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers-Danlos syndrome type VII.进一步的证据表明，I型前胶原氨基端前肽未能裂解是VII型埃勒斯-当洛综合征的病因。
Hum Mutat. 1994;3(4):358-64. doi: 10.1002/humu.1380030406.
8
A heterozygous collagen defect in a variant of the Ehlers-Danlos syndrome type VII. Evidence for a deleted amino-telopeptide domain in the pro-alpha 2(I) chain.VII型埃勒斯-当洛综合征变体中的杂合性胶原缺陷。原α2（I）链中氨基端肽结构域缺失的证据。
J Biol Chem. 1985 Sep 15;260(20):11322-9.
9
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome.埃勒斯-当洛综合征中V型胶原蛋白基因（COL5A1）的外显子跳跃突变。
J Med Genet. 1996 Nov;33(11):940-6. doi: 10.1136/jmg.33.11.940.
10
Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.一名埃勒斯-当洛综合征VII型患者的前α2（I）胶原蛋白基因剪接突变的结构和功能特征
J Biol Chem. 1990 Sep 15;265(26):16007-11.

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Dev Dyn. 2021 Mar;250(3):318-344. doi: 10.1002/dvdy.220. Epub 2020 Aug 17.
2
Splice receptor-site mutation c.697-2A>G of the gene in a Chinese family with osteogenesis imperfecta.一个中国成骨不全家庭中该基因的剪接受体位点突变c.697-2A>G
Intractable Rare Dis Res. 2019 May;8(2):150-153. doi: 10.5582/irdr.2019.01046.
3
Heterozygous mutation of c.3521C>T in COL1A1 may cause mild osteogenesis imperfecta/Ehlers-Danlos syndrome in a Chinese family.

本文引用的文献

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Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels.使用聚丙烯酰胺凝胶内蛋白质的溴化氰裂解对胶原蛋白链进行肽图谱分析。
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Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.
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Ehlers-Danlos syndrome type VII: phenotype and genotype.VII型埃勒斯-当洛综合征：表型与基因型
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Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.在III/IV型成骨不全症中，I型前胶原α1(I)链的一个等位基因的第415位残基处，半胱氨酸取代了甘氨酸。
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The molecular defect in a family with mild atypical osteogenesis imperfecta and extreme joint hypermobility: exon skipping caused by an 11-bp deletion from an intron in one COL1A2 allele.
Hum Genet. 1992 Mar;88(6):627-33. doi: 10.1007/BF02265286.
一名患有VII型埃勒斯-当洛综合征患者的I型前胶原结构突变的证据。
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4
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta.与人类I型前胶原的原α2（I）基因相关的限制性片段长度多态性。应用于一个常染色体显性形式的成骨不全症家族。
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Cleavage of structural proteins during the assembly of the head of bacteriophage T4.在噬菌体T4头部组装过程中结构蛋白的切割
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Procollagen peptidase: an enzyme excising the coordination peptides of procollagen.前胶原肽酶：一种切除前胶原中协调肽的酶。
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