Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We characterized cDNA clones specific for the extracellular matrix glycoprotein undulin. Two sets of cDNA clones were isolated from a human placental lambda gt11 expression library and from a rhabdomyosarcoma cell line encoding two partially identical carboxyl-terminal polypeptides of 843 (Un1) and 443 (Un2) amino acids suggesting differential splicing of a single gene transcript. Northern blot analysis of human rhabdomyosarcoma cell poly (A) RNA with cDNA specific for Un1 identified transcripts of approximately 4.2, 6.5, and 8.5 kilobases, whereas a probe specific for Un2 detected a single mRNA of approximately 5 kilobases. Since a monoclonal antibody that is reactive with a sequence encoded by Un1 and not by Un2 detects the bands considered characteristic for undulin in Western blots, the mRNAs related to Un1 may code for the major part of the undulin molecule. The protein sequences deduced from Un1 and Un2 reveal an amino-terminal differentially spliced von Willebrand factor A domain, characteristic of proteins that interact with interstitial collagens, which is linked to fibronectin-like type III homology units by a unique sequence of 57 amino acids. Whereas Un2 encodes two complete and one incomplete type III homologies followed by a unique acidic carboxyl-terminal domain of 118 amino acids, Un1 codes for seven complete and one truncated type III homologies, followed by a short proline-rich carboxyl-terminal segment of 23 amino acids. Considering the 298 amino acids occurring in identical segments, the 989 different amino acid positions deduced from clones Un1 and Un2 represent an estimated 40% of the overall undulin sequence. In the context of 1) rotary shadowing electron microscopy data showing undulin as a structure composed of nodules that are interconnected by flexible rods of varying size, 2) the presence of three major bands of Mr 270,000, 190,000, and 180,000 in sodium dodecyl sulfate-polyacrylamide gel electrophoresis, with 3) common antigenic epitopes and similar peptide maps (Schuppan, D., Cantaluppi, M.C., Becker, J., Veit, A., Bunte, T., Troyer, D., Schuppan, F., Schmid, M., Ackermann, R., and Hahn, E.G. (1990) J. Biol. Chem. 265, 8823-8832), our finding of differentially spliced type III homology units, as found in tenascin and fibronectin, suggests that undulin is another member of the fibronectin-tenascin family of extracellular matrix glycoproteins. Furthermore, as in fibronectin and tenascin, undulin bears an additional subset of interactive domains tailored to specific structural and functional roles in development and differentiation.
 ...
PMID:Undulin is a novel member of the fibronectin-tenascin family of extracellular matrix glycoproteins. 171 29

We have recently isolated a gene, Ankyrin-repeated protein with a proline-rich region (ARPP), that is highly expressed in the skeletal and cardiac muscle. Our previous immunohistochemical analysis revealed that ARPP expression was augmented in rhabdomyosarcoma but scarcely detectable in leiomyosarcoma, showing that ARPP is a useful marker for rhabdomyosarcoma. In the present study, we generated the anti-ARPP monoclonal antibody, YAS11, immunoreactive with the N-terminal region (amino-acids residues 1-145) of the ARPP protein. Further, we immunohistochemically analyzed 100 renal tumors including 14 oncocytomas, and 86 renal cell carcinomas (RCCs). We found that ARPP was highly expressed in 12 of the 14 (85.7%) oncocytomas, but was detectable in only four of the 86 (4.7%) RCCs. Interestingly, ARPP was not detected in any of 11 chromophobe RCCs, suggesting that ARPP may be useful for differential diagnosis between oncocytoma and chromophobe RCC. Furthermore, we found that ARPP was selectively expressed in part of the distal renal tubule in normal kidney. Immunoelectron microscopy with anti-ARPP antibody revealed that ARPP was localized in mitochondria and nuclei in both the normal distal renal tubule and oncocytoma, suggesting that oncocytoma may be derived from the distal nephron, and probably from part of the distal renal tubule.
 ...
PMID:ARPP protein is selectively expressed in renal oncocytoma, but rarely in renal cell carcinomas. 1720 5