Alternative splicing of type II procollagen: IIB or not IIB?

McAlinden, Audrey

doi:10.3109/03008207.2014.908860

Cited by 17 publications

(14 citation statements)

References 90 publications

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“…The COL2A1 gene encodes the alpha‐1 chain of procollagen type II, and three chains folded together in a triple‐helical configuration to form the procollagen homotrimer. Mature type II collagen molecules are formed after secretion into the extracellular matrix and removal of procollagen's NH 2 and COOH propeptides (Figure ) . These processed collagens subsequently form a covalently cross‐linked fibrillar network in the extracellular matrix that provides tensile strength to connective tissues .…”

Section: Introductionmentioning

confidence: 99%

“…Mature type II collagen molecules are formed after secretion into the extracellular matrix and removal of procollagen's NH 2 and COOH propeptides ( Figure 1). 3,4 These processed collagens subsequently form a covalently cross-linked fibrillar network in the extracellular matrix that provides tensile strength to connective tissues. 5,6 Procollagen type II contains a triple-helical domain, which is characterized by about 300 Gly-X-Y repeats.…”

Section: Introductionmentioning

confidence: 99%

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Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Zhang

et al. 2019

Clinical Genetics

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The COL2A1 gene encodes the alpha‐1 chain of type II procollagen. Type II collagen, comprised of three identical alpha‐1 chains, is the major component of cartilage. COL2A1 gene variants are the etiologies of genetic diseases, termed type II collagenopathies, with a wide spectrum of clinical presentations. To date, at least 460 distinct COL2A1 mutations, identified in 663 independent probands, and 21 definite disorders have been reported. Nevertheless, a well‐defined genotype‐phenotype correlation has not been established, and few hot spots of mutation have been reported. In this study, we analyzed data of COL2A1 variants and clinical information of patients obtained from the Leiden Open Variation Database 3.0, as well as the currently available relevant literature. We determined the characteristics of the COL2A1 variants and distributions of the clinical manifestations in patients, and identified four likely genotype‐phenotype correlations. Moreover, we classified 21 COL2A1‐related disorders into five categories, which may assist clinicians in understanding the essence of these complex phenotypes and prompt genetic screening in clinical practice.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Zhang

et al. 2019

Clinical Genetics

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“…The distribution of collagen IIB isoform was investigated, which was prominently localised throughout the cartilage matrix from TS22. Previous studies have proposed that collagen IIA is the main isoform produced at E12.5, with IIB being reported as being barely detectable (Hering et al, 2014;Lewis et al, 2012;McAlinden, 2014) at that stage. By E16.5, the IIA isoform is mainly localised to the resting zone of the cartilage whereas IIB is present throughout the cartilage including the growth plates.…”

Section: Discussionmentioning

confidence: 91%

Initiation and emerging complexity of the collagen network during prenatal skeletal development

Ahmed

Nowlan²

2020

eCM

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The establishment of a complex collagen network is critical for the architecture and mechanical properties of cartilage and bone. However, when and how the key collagens in cartilage and bone develop has not been characterised in detail. The study provides a detailed qualitative characterisation of the spatial localisations of collagens I-III, V-VI and IX-XI in the mouse and their regional architecture variation over three developmentally significant time points: when the rudiment starts to form at E13.5 [Theiler stage (TS) 22], when mineralisation is present at E16.5 (TS25) and during the latest prenatal stage at E18.5 (TS27). Dynamic changes in collagen distribution between stages with the progression of the growth plate and mineralisation (particularly collagens I, II, V, X and XI) and dramatic changes in collagen structural organisation and complexity with maturation, especially for collagens II and XI, were observed. The future articular cartilage region was demarcated by pronounced collagens II and VI expression at TS27 and the emergence of collagens I, III, V, IX and XI in the tendon and its insertion site was observed. The present study revealed, for the first time, the emergence and maturation of key cartilage and bone collagens, in high resolution, at multiple locations across the entire rudiment, including the joint regions, at three of the most developmentally significant stages of skeletogenesis, furthering the understanding of disease and regeneration of skeletal tissues.

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“…Type II collagen have four isoforms, including IIA, IIB, IIC and IID16. They are expressed in a developmentally regulated manner in chondrogenic tissue.…”

Section: Discussionmentioning

confidence: 99%

Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease

Hao

Wang

Wen

et al. 2017

Sci Rep

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Kashin-Beck disease (KBD) is a chronic osteochondropathy. The pathogenesis of growth and development failure of hand of KBD remains elusive now. In this study, we conducted a two-stage genome-wide association study (GWAS) of palmar length-width ratio (LWR) of KBD, totally including 493 study subjects. Affymetrix Genome Wide Human SNP Array 6.0 was applied for genome-wide SNP genotyping of 90 KBD patients. Association analysis was conducted by PLINK. Imputation analysis was performed by IMPUTE against the reference panel of the 1000 genome project. Two SNPs were selected for replication in an independent validation sample of 403 KBD patients. In the discovery GWAS, significant association was observed between palmar LWR and rs2071358 of COL2A1 gene (P value = 4.68 × 10−8). In addition, GWAS detected suggestive association signal at rs4760608 of COL2A1 gene (P value = 1.76 × 10−4). Imputation analysis of COL2A1 further identified 2 SNPs with association evidence for palmar LWR. Replication study observed significant association signals at both rs2071358 (P value = 0.017) and rs4760608 (P value = 0.002) of COL2A1 gene. Based on previous and our study results, we suggest that COL2A1 was a likely susceptibility gene involved in the hand development failure of KBD.

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Alternative splicing of type II procollagen: IIB or not IIB?

Cited by 17 publications

References 90 publications

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies

Initiation and emerging complexity of the collagen network during prenatal skeletal development

Genome-wide association study identifies COL2A1 locus involved in the hand development failure of Kashin-Beck disease

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