Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1)

Ala‐Kokko, Leena; Kvist, Ari-Pekka; Metsäranta, Marjo; Kivirikko, Kari I.; Crombrugghe, Benoít de; Prockop, Darwin J.; Vuorio, Eero

doi:10.1042/bj3080923

Cited by 25 publications

(26 citation statements)

References 38 publications

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“…A sequence of 450 bp in the first intron of the rat type I1 collagen gene has been shown to increase the promoter activity several fold and to function as a tissue specific enhancer (Wang et al, 1991). Comparative sequence analyses of the rat, mouse, and human proal(I1) collagen promoter and intron 1 sequences have revealed marked conservation of the nucleotide sequence between the three species (Vikkula et al, 1992;Ala-Kokko et al, 1995) suggesting conservation of repulatorv seauences. cific enhancer in intron 1 comes from our earlier data.…”

Section: Regulation Of Procwl(i1) Collagen Promotermentioning

confidence: 99%

“…Ala-Kokko et al (1991) have shown in a cell culture system that correct termination and 3'-processing of RNA transcripts of the gene also require sequences extending more than 80 bp downstream of the major polyadenylation signal. The entire 3'-untranslated domain of the mRNA is highly conserved between mammalian species (Metsaranta et al, 1991a;Ala-Kokko et al, 1995).…”

Section: Introductionmentioning

confidence: 99%

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Developmental expression of a type II collagen/β‐galactosidase fusion gene in transgenic mice

Metsäranta¹,

Garofalo²,

Smith³

et al. 1995

Developmental Dynamics

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The correct temporal and spatial expression of the type I1 collagen gene is believed to be important for normal development and growth of the skeleton and the eye, i.e., tissues where the protein product is predominantly found. To study transcriptional activation of type I1 collagen gene in skeletal and nonskeletal tissues we produced transgenic mice carrying murine proal(I1) collagen@-galactosidase fusion gene constructs. The expression of the fusion gene was found to depend on the presence of intron 1 sequences: constructs with most of intron 1 deleted failed to reveal any p-galactosidase activity confirming the important role of regulatory sequences within intron 1 of the gene. High-level expression of the functional construct was clearly confined to cartilaginous tissues but transient low-level expression was also observed in extraskeletal locations, such as the developing brain and the notochord. The results demonstrate that the regulatory elements in the prooll(I1) collagen@-galactosidase fusion gene construct confer both temporal and spatial specificity indistinguishable from that of the endogenous proal(I1) collagen gene as determined by the presence of the corresponding mRNA by in situ hybridization. Furthermore the p-galactosidase activity correlated well with the progression of chondrogenesis as seen by staining of whole mouse embryos with Alizarin red S and Alcian blue in the hybrid mouse strain used for microinjections. The transgenic mouse line produced should prove useful for studies on various aspects of chondrogenesis. Furthermore, the data shows that the regulatory elements present in the construct are sufficient for targetting the expression of other genes in cartilage.

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Section: Regulation Of Procwl(i1) Collagen Promotermentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Developmental expression of a type II collagen/β‐galactosidase fusion gene in transgenic mice

Metsäranta¹,

Garofalo²,

Smith³

et al. 1995

Developmental Dynamics

View full text Add to dashboard Cite

show abstract

“…The Col2a1 gene contains many other potential transcription factor recognition motifs in addition to those for Sox proteins (Ala-Kokko et al, 1995;Ghayor et al, 2000;Huang et al, 2002;Kamachi et al, 1999;Murray et al, 2000). However, the identities most of the factors that bind to these motifs and their possible interactions with Sox proteins have not been elucidated.…”

Section: Introductionmentioning

confidence: 99%

The homeobox transcription factor Barx2 regulates chondrogenesis during limb development

et al. 2005

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“…1,2,[6][7][8] Collagen XI is a heterotrimer of a1(XI), a2(XI) and a3(XI) chains encoded by three distinct genes; COL11A1, COL11A2 and COL2A1. [9][10][11] The COL2A1 gene also codes for the a1 chain of collagen II, but the a3(XI) chain undergoes more extensive post-translational modification than the a1(II) chain. 12 Collagens II and XI are present throughout Meckel's cartilage, which provides mechanical support for the developing mandible.…”

Section: Introductionmentioning

confidence: 99%

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

et al. 2003

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Cleft palate is a common birth defect, but its etiopathogenesis is mostly unknown. Several studies have shown that cleft palate has a strong genetic component. Robin sequence consists of three of the following four findings: micrognathia, glossoptosis, obstructive apnea, and cleft palate. While cleft palate is mainly nonsyndromic, about 80 percent of Robin sequence cases are associated with syndromes. Mutations in genes coding for cartilage collagens II and XI, COL2A1, COL11A1 and COL11A2, have been shown to cause chondrodysplasias that are commonly associated with Robin sequence, micrognathia or cleft palate. We therefore analyzed a cohort of 24 patients with nonsyndromic Robin sequence, 17 with nonsyndromic cleft palate and 21 with nonsyndromic micrognathia for mutations in COL11A2. A total of 23 Robin sequence patients were also analyzed for mutations in COL2A1 and COL11A1. We detected two disease-associated mutations in patients with Robin sequence, an Arg to stop codon mutation in COL11A2 and a splicing mutation in COL11A1. Two putatively disease-associated sequence variations were found in COL11A1 in Robin sequence patients, one in COL11A2 in a patient with micrognathia and one in COL2A1 in two patients with Robin sequence. The results showed that sequence variations in these genes can play a role in the etiology of Robin sequence, cleft palate and micrognathia but are not common causes of these phenotypes.

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Conservation of the sizes of 53 introns and over 100 intronic sequences for the binding of common transcription factors in the human and mouse genes for type II procollagen (COL2A1)

Cited by 25 publications

References 38 publications

Developmental expression of a type II collagen/β‐galactosidase fusion gene in transgenic mice

Developmental expression of a type II collagen/β‐galactosidase fusion gene in transgenic mice

The homeobox transcription factor Barx2 regulates chondrogenesis during limb development

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia

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