Complete sequence of human vinculin and assignment of the gene to chromosome 10.

Weller, P A; Ogryzko, Elena P.; Corben, E B; Zhidkova, Natalia I.; Patel, Bipin; Price, G J; Spurr, Nigel K.; Koteliansky, Victor; Critchley, David R.

doi:10.1073/pnas.87.15.5667

Cited by 68 publications

(42 citation statements)

References 35 publications

(43 reference statements)

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“…The first is the ubiquitously expressed VCL, and the second is the muscle-specific isoform metavinculin that includes an additional 68-amino acid (aa) sequence encoded by an alternatively spliced exon 19. 37 The VCL RNA encodes for a 1066-aa protein that has a molecular weight of B117 KDa. The structure of the protein is well studied; VCL has a head domain (residues 1-835) and a tail domain (residues 896-1066) that are connected by a flexible hinge region.…”

Section: Discussionmentioning

confidence: 99%

Renal cell carcinoma with novel VCL–ALK fusion: new representative of ALK-associated tumor spectrum

et al. 2011

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Renal cell carcinoma represents a model for contemporary classification of solid tumors; however, unusual and unclassifiable cases exist and are not rare in children and young adults. The anaplastic lymphoma kinase (ALK) gene has recently been implicated in subsets of pulmonary, esophageal, breast, and colon cancers. These findings strengthen the importance of molecular classification of carcinomas across different organ sites, especially considering the evolving targeted anticancer therapies with ALK inhibitors. In the current study of six pediatric renal cell carcinomas, two cases exhibited structural karyotypic abnormalities involving the ALK locus on chromosomal band 2p23. Fluorescence in situ hybridization (FISH) studies were positive for an ALK rearrangement in one case, and subsequent 5 0 rapid amplification of cDNA ends analysis of this tumor revealed that the 3 0 portion of the ALK transcript encoding for the kinase domain was fused in frame to the 5 Keywords: ALK; FISH; fusion gene; renal cell carcinoma; translocation; VCL Renal cell carcinoma has an incidence of 209 000 cases per year and is responsible for 102 000 deaths worldwide annually. 1,2 Approximately 80% of all renal carcinoma cases are currently classified as clear cell, papillary, or chromophobe subtypes with discrete molecular abnormalities characteristic for each group. 2-7 Rare subtypes have also been defined by the 2004 World Health Organization classification and include collecting duct, multilocular cystic, mucinous tubular and spindle cell, medullary, and Xp11.2 translocation-and neuroblastoma-associated carcinomas; each of these subtypes constitutes B1% of all primary kidney epithelial tumors and the three latter subtypes are diagnosed predominantly in children. 8,9 Additional

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Section: Discussionmentioning

confidence: 99%

Renal cell carcinoma with novel VCL–ALK fusion: new representative of ALK-associated tumor spectrum

et al. 2011

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“…The fact that no amino acid difference could be observed between vinculin and meta-vinculin apart from this peptide suggested that they are encoded by alternatively spliced transcripts derived from a single gene [12]. Furthermore, extensive Southern-blot analysis of the human and chicken vinculin genes is consistent with a single functional gene [17,18] and the human vinculin gene has been mapped to chromosome 10q11.2-qter [18]. In the present communication, we establish that the human vinculin gene indeed contains an exon coding for the meta-vinculin-specific insert and that this exon is alternatively spliced giving rise to vinculin and metavinculin mRNA.…”

mentioning

confidence: 49%

“…Clones were analyzed by restriction-enzyme mapping and Southern blotting, and suitable fragments were subcloned into the plasmid pTZ 19 for further analysis. Oligonucleotides derived from human vinculin and meta-vinculin cDNA sequences [18] (this work) were used as probes to identify restriction fragments of 1 clones coding for vinculin and meta-vinculin fragments which were then subcloned into the plasmid Bluescript (Stratagene). Sequencing of double-stranded templates, following exonuclease 111 digestion, where appropriate, was carried out using the dideoxy-chain termination method (20).…”

Section: Isolation Of Genomic Clonesmentioning

confidence: 99%

“…All procedures were essentially as described earlier [I 91. Two oligonucleotide primers, derived from the vinculin cDNA sequences [18] and flanking the predicted insert site in meta-vinculin were used (the numbering of nucleotides is taken from [18]); oligonucleotide 1, nucleotides 2780 -2753 and oligonucleotide 2, nucleotides 2700 -2727. The samples were subjected to 33 cycles of amplification using a programmed thermal cycler (Perkin-Elmer/Cetus).…”

Section: Reverse Transcription and Polymerase-chain Reactionmentioning

confidence: 99%

“…Two oligonucleotides (see Materials and Methods) coding for the flanking regions of this site in the human vinculin cDNA sequence [18] were used in a polymerase-chain reaction with uterus smooth-muscle cDNA. By this means, a human DNA fragment with the expected size of 285 nucleotides was obtained.…”

Section: Amplification and Sequencing Of The Meta-vinculin-specific Cmentioning

confidence: 99%

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An additional exon in the human vinculin gene specifically encodes meta‐vinculin‐specific difference peptide

Koteliansky

Ogryzko

Zhidkova

et al. 1992

European Journal of Biochemistry

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We have analyzed the structure, origin and expression of the high-molecular-mass muscle-specific variant of vinculin, called meta-vinculin. The meta-vinculin-specific inserts from the human and avian molecules have been isolated and sequenced and the sequences confirmed via cloning of the corresponding cDNA. Comparison of the human, avian and determined porcine sequences revealed cross-species identity in the C-terminal half of the insert. Human and porcine meta-vinculin were highly similar in the insert region, showing only five amino acid exchanges; avian meta-vinculin showed 22 exchanges in the same region compared to human meta-vinculin and exhibited, in addition, one extra amino acid, making 69 in all. Each insert was flanked by characteristic KWSSK motifs.Evidence for two vinculin mRNA species in human uterus smooth muscle was provided by reverse transcription combined with the polymerase chain reaction, as well as by ribonuclease-mapping analysis of cDNA/mRNA hybrids. One of the mRNA species contained an additional 204-nucleotide insert that precisely encoded the meta-vinculin-specific peptide.Sequence analysis of the appropriate portion of the human vinculin gene showed that the section coding for the meta-vinculin-specific insert is present as a discrete exon. Thus, meta-vinculin and vinculin mRNA are generated by alternative splicing.Vinculin is a 11 7-kDa cytoskeletal protein associated with membrane actin-filament-attachment sites of cell-cell and cellmatrix adherens-type junctions [I, 21. Several studies have shown a remarkable microheterogeneity of vinculin in the form of antigenically indistinguishable isoelectrophoretic variants, some of which show tissue-specific expression [3-51. In addition to iso-vinculins, smooth muscle and striated muscle contain an 150-kDa protein, denoted as meta-vinculin, which shares similar peptide-map patterns, antigenic and functional properties with vinculin [6-1 I]. Meta-vinculin and vinculin are localized in the same cellular adhesive structures, in microfilament-associated membrane-bound plaques of smooth muscle, in intercalated discs and costameres of cardiac muscle, and in focal contacts of cultivated smooth-muscle cells [ l l , 121. Recently it was established that meta-vinculin may serve as a specific marker of smooth muscle [lo, 13, 141; it was identified in all human, chicken and porcine smooth muscles but not in non-muscle tissues and cultured cells [lo, 13, 141. The expression of meta-vinculin in human aortic smooth- To obtain a more complete understanding of the structural relationship between vinculin and meta-vinculin, the amino acid sequence of a porcine meta-vinculin-specific peptide was determined 1121. Porcine vinculin and meta-vinculin differ by a 68-residue insert, located close to the C-terminal part of the molecule [12]. The fact that no amino acid difference could be observed between vinculin and meta-vinculin apart from this peptide suggested that they are encoded by alternatively spliced transcripts derived from a single gene [12]. Furtherm...

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Shigella actin-based motility in the absence of vinculin

Goldberg

1997

Cell Motil. Cytoskeleton

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Complete sequence of human vinculin and assignment of the gene to chromosome 10.

Cited by 68 publications

References 35 publications

Renal cell carcinoma with novel VCL–ALK fusion: new representative of ALK-associated tumor spectrum

Renal cell carcinoma with novel VCL–ALK fusion: new representative of ALK-associated tumor spectrum

An additional exon in the human vinculin gene specifically encodes meta‐vinculin‐specific difference peptide

Shigella actin-based motility in the absence of vinculin

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