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Gene Review

MERTK  -  MER proto-oncogene, tyrosine kinase

Homo sapiens

Synonyms: MER, Proto-oncogene c-Mer, RP38, Receptor tyrosine kinase MerTK, Tyro12, ...
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Disease relevance of MERTK

  • Our results suggest that retinal degeneration in these individuals is due to apparently complete paternal isodisomy involving reduction to homoallelism for RPE65 or MERTK loss-of-function alleles [1].
  • MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells [2].
  • CONCLUSION: Our findings suggest that polymorphisms in MERTK might be one of the genetic risk factors for presenting leucopenia and lymphopenia in SLE patients [3].
  • OBJECTIVE: The MER receptor tyrosine kinase (MERTK) gene is critical for the efficient clearance of apoptotic cells and has implications for inflammation and autoimmune diseases such as systemic lupus erythematosus (SLE) [3].
  • PURPOSE: To determine whether mutations in the MERTK gene are present in Japanese patients with autosomal recessive retinitis pigmentosa (arRP) [4].

High impact information on MERTK

  • Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa [5].
  • Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer segments by the retinal pigment epithelium (RPE) and retinal degeneration [5].
  • At least six new families of MER repeats and one pseudogene are intercalated within and between the Alu clusters [6].
  • Although the enzyme from Streptomyces lividans has no addition, from Pseudomonas aeruginosa Tn501 and Bacillus sp. strain RC607 it has one and two copies respectively of a domain of 80-85 residues, highly homologous to MerP, the periplasmic component of proteins encoded by the mer operon [7].
  • Complementary DNA (cDNA) clones corresponding to the major histocompatibility (MHC) class III antigen, complement protein C2, have been isolated from human liver cDNA libraries with the use of a complex mixture of synthetic oligonucleotides (17 mer) that contains 576 different oligonucleotide sequences [8].

Chemical compound and disease context of MERTK


Biological context of MERTK

  • Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively [1].
  • In contrast, C844 MERTK was expressed at low levels and did not stimulate tyrosine phosphorylation [2].
  • CONCLUSIONS: The present study reports the identification of R844C, the first putative pathogenic MERTK missense mutation that results in severe retinal degeneration with childhood onset when in compound heterozygous form with a R722X allele [2].
  • METHODS: MERTK missense variants identified by single-strand conformational polymorphism (SSCP) and sequence analysis were introduced into expression constructs and used to transfect HEK293T cells [2].
  • We investigated the genetic polymorphisms in MERTK to evaluate it as a potential candidate gene for a host genetic study of SLE and clinical manifestations in patients with SLE [3].

Anatomical context of MERTK


Associations of MERTK with chemical compounds

  • Platelets derived from mer-deficient mice had decreased platelet aggregation in responses to low concentrations of collagen, U46619, and PAR4 thrombin receptor agonist peptide in vitro [10].
  • The phenoxazine/C-5 propynyl U 7-mer S-ON showed dose-dependent, sequence-specific, and target-selective antisense activity following microinjection into cells [16].
  • We now report that a 21-mer peptide, in which a tryptophan has been incorporated at the N terminus of the 20th mer, can replace the R2 subunit and initiate nucleotide reduction by photoinitiated radical generation [17].
  • Forty patients with histologically confirmed neoplastic diseases were treated with the methanol extraction residue of Bacillus Calmette-Guérin (MER) [18].
  • Eighty-four patients with advanced cancer refractory to conventional therapeutic modalities were randomly assigned in double-blind fashion to one of three intradermal treatment regimens: "high"-dose methanol extraction residue fraction of Bacillus Calmette-Guérin (MER) (2.0 mg); "low"-dose MER (0.5 mg); or 0.9% NaCl solution placebo [19].

Regulatory relationships of MERTK


Other interactions of MERTK

  • We identified an apparently homozygous loss-of-function mutation of RPE65 (1p31) in one retinal dystrophy patient and an apparently homozygous loss-of-function mutation of MERTK (2q14.1) in a second retinal dystrophy patient [1].
  • MATERIALS AND METHODS: In this report, we further investigate the protein expression of the whole axl receptor tyrosine-kinase family (axl/ufo, nyk/mer and sky/rse) by immunohistochemistry and their clinicopathological associations [20].

Analytical, diagnostic and therapeutic context of MERTK


  1. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Thompson, D.A., McHenry, C.L., Li, Y., Richards, J.E., Othman, M.I., Schwinger, E., Vollrath, D., Jacobson, S.G., Gal, A. Am. J. Hum. Genet. (2002) [Pubmed]
  2. MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells. McHenry, C.L., Liu, Y., Feng, W., Nair, A.R., Feathers, K.L., Ding, X., Gal, A., Vollrath, D., Sieving, P.A., Thompson, D.A. Invest. Ophthalmol. Vis. Sci. (2004) [Pubmed]
  3. MERTK polymorphisms associated with risk of haematological disorders among Korean SLE patients. Cheong, H.S., Lee, S.O., Choi, C.B., Sung, Y.K., Shin, H.D., Bae, S.C. Rheumatology (Oxford, England) (2007) [Pubmed]
  4. Screening of the MERTK gene for mutations in Japanese patients with autosomal recessive retinitis pigmentosa. Tada, A., Wada, Y., Sato, H., Itabashi, T., Kawamura, M., Tamai, M., Nishida, K. Mol. Vis. (2006) [Pubmed]
  5. Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Gal, A., Li, Y., Thompson, D.A., Weir, J., Orth, U., Jacobson, S.G., Apfelstedt-Sylla, E., Vollrath, D. Nat. Genet. (2000) [Pubmed]
  6. Dense Alu clustering and a potential new member of the NF kappa B family within a 90 kilobase HLA class III segment. Iris, F.J., Bougueleret, L., Prieur, S., Caterina, D., Primas, G., Perrot, V., Jurka, J., Rodriguez-Tome, P., Claverie, J.M., Dausset, J. Nat. Genet. (1993) [Pubmed]
  7. Structure of the detoxification catalyst mercuric ion reductase from Bacillus sp. strain RC607. Schiering, N., Kabsch, W., Moore, M.J., Distefano, M.D., Walsh, C.T., Pai, E.F. Nature (1991) [Pubmed]
  8. Isolation of a complementary DNA clone for the human complement protein C2 and its use in the identification of a restriction fragment length polymorphism. Woods, D.E., Edge, M.D., Colten, H.R. J. Clin. Invest. (1984) [Pubmed]
  9. Clinical characterisation of a family with retinal dystrophy caused by mutation in the Mertk gene. Tschernutter, M., Jenkins, S.A., Waseem, N.H., Saihan, Z., Holder, G.E., Bird, A.C., Bhattacharya, S.S., Ali, R.R., Webster, A.R. The British journal of ophthalmology. (2006) [Pubmed]
  10. Mer receptor tyrosine kinase signaling participates in platelet function. Chen, C., Li, Q., Darrow, A.L., Wang, Y., Derian, C.K., Yang, J., de Garavilla, L., Andrade-Gordon, P., Damiano, B.P. Arterioscler. Thromb. Vasc. Biol. (2004) [Pubmed]
  11. A soluble form of the Mer receptor tyrosine kinase inhibits macrophage clearance of apoptotic cells and platelet aggregation. Sather, S., Kenyon, K.D., Lefkowitz, J.B., Liang, X., Varnum, B.C., Henson, P.M., Graham, D.K. Blood (2007) [Pubmed]
  12. Clinical studies of methanol extraction residue fraction of Bacillus Calmette-Guérin as an immunostimulant in patients with advanced cancer. Moertel, C.G., Ritts, R.E., Schutt, A.J., Hahn, R.G. Cancer Res. (1975) [Pubmed]
  13. Transforming growth factor-beta-mediated autocrine growth regulation of gliomas as detected with phosphorothioate antisense oligonucleotides. Jachimczak, P., Hessdörfer, B., Fabel-Schulte, K., Wismeth, C., Brysch, W., Schlingensiepen, K.H., Bauer, A., Blesch, A., Bogdahn, U. Int. J. Cancer (1996) [Pubmed]
  14. The C-mer gene is induced by Epstein-Barr virus immediate-early protein BRLF1. Li, Y., Mahajan, N.P., Webster-Cyriaque, J., Bhende, P., Hong, G.K., Earp, H.S., Kenney, S. J. Virol. (2004) [Pubmed]
  15. Cloning and mRNA expression analysis of a novel human protooncogene, c-mer. Graham, D.K., Dawson, T.L., Mullaney, D.L., Snodgrass, H.R., Earp, H.S. Cell Growth Differ. (1994) [Pubmed]
  16. Cellular penetration and antisense activity by a phenoxazine-substituted heptanucleotide. Flanagan, W.M., Wagner, R.W., Grant, D., Lin, K.Y., Matteucci, M.D. Nat. Biotechnol. (1999) [Pubmed]
  17. Turning on ribonucleotide reductase by light-initiated amino acid radical generation. Chang, M.C., Yee, C.S., Stubbe, J., Nocera, D.G. Proc. Natl. Acad. Sci. U.S.A. (2004) [Pubmed]
  18. Effects of methanol extraction residue of Bacillus calmette-Guérin in humans. Perloff, M., Holland, J.F., Lumb, G.J., Bekesi, J.G. Cancer Res. (1977) [Pubmed]
  19. A comparative clinical and immunological assessment of methanol extraction residue of Bacillus Calmette-Guérin versus placebo in patients with advanced cancer. O'Connell, M.J., Moertel, C.G., Ritts, R.E., Frytak, S., Reitemeier, R.J. Cancer Res. (1979) [Pubmed]
  20. Clinical significance of AXL kinase family in gastric cancer. Wu, C.W., Li, A.F., Chi, C.W., Lai, C.H., Huang, C.L., Lo, S.S., Lui, W.Y., Lin, W.C. Anticancer Res. (2002) [Pubmed]
  21. AAV-Mediated gene transfer slows photoreceptor loss in the RCS rat model of retinitis pigmentosa. Smith, A.J., Schlichtenbrede, F.C., Tschernutter, M., Bainbridge, J.W., Thrasher, A.J., Ali, R.R. Mol. Ther. (2003) [Pubmed]
  22. Homozygous deletion in the coding sequence of the c-mer gene in RCS rats unravels general mechanisms of physiological cell adhesion and apoptosis. Nandrot, E., Dufour, E.M., Provost, A.C., Péquignot, M.O., Bonnel, S., Gogat, K., Marchant, D., Rouillac, C., Sépulchre de Condé, B., Bihoreau, M.T., Shaver, C., Dufier, J.L., Marsac, C., Lathrop, M., Menasche, M., Abitbol, M.M. Neurobiol. Dis. (2000) [Pubmed]
  23. Assignment of protooncogene MERTK (a.k.a. c-mer) to human chromosome 2q14.1 by in situ hybridization. Weier, H.U., Fung, J., Lersch, R.A. Cytogenet. Cell Genet. (1999) [Pubmed]
  24. Chemotherapy versus chemoimmunotherapy (CAF v CAFVP v CMF each +/- MER) for metastatic carcinoma of the breast: a CALGB study. Cancer and Leukemia Group B. Aisner, J., Weinberg, V., Perloff, M., Weiss, R., Perry, M., Korzun, A., Ginsberg, S., Holland, J.F. J. Clin. Oncol. (1987) [Pubmed]
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