The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis

Human Molecular Genetics

Volumn 22, Issue 8, 2013, Pages 1483-1492

  Dieterich, Klaus ^a,b,c   Quijano Roy, Susana ^d   Monnier, Nicole ^a,b   Zhou, Jie ^b   Fauré, Julien ^a,b   Smirnow, Daniela Avila ^d   Carlier, Robert ^d   Laroche, Cécile ^e   Marcorelles, Pascale ^f   Mercier, Sandra ^g   Mégarbané, André ^h   Odent, Sylvie ^g   Romero, Norma ⁱ   Sternberg, Damien ^j   Marty, Isabelle ^a   Estournet, Brigitte ^d   Jouk, Pierre Simon ^b   Melki, Judith ^c   Lunardi, Joël ^a,b  

^a GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c Universite Paris Sud   (France)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e LIMOGES UNIVERSITY HOSPITAL   (France)

^f BREST UNIVERSITY HOSPITAL   (France)

^g UNIVERSITÉ DE RENNES 1   (France)

^h SAINT JOSEPH UNIVERSITY   (Lebanon)

ⁱ Institut de Myologie   (France)

^j PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ENDOTHELIN CONVERTING ENZYME LIKE 1; PROTEINASE; UNCLASSIFIED DRUG;

ADULT; ARTHROGRYPOSIS; ARTICLE; CHROMOSOME 2Q; CHROMOSOME 2Q37; CLINICAL ARTICLE; DISEASE SEVERITY; DISTAL ARTHROGRYPOSIS; EMBRYO DEVELOPMENT; FEMALE; FINGER; GENE MAPPING; GENE MUTATION; HUMAN; KNEE FUNCTION; MALE; MUSCLE ATROPHY; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SKELETAL MUSCLE;

ANIMALS; ARTHROGRYPOSIS; CENTRAL NERVOUS SYSTEM; CHROMOSOME MAPPING; CONSANGUINITY; EMBRYONIC DEVELOPMENT; GENES, RECESSIVE; GENETIC LINKAGE; HOMOZYGOTE; HUMANS; METALLOENDOPEPTIDASES; MICE; MOTOR NEURONS; MUTATION; PEDIGREE; PHENOTYPE;

MUS;

EID: 84875241885     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds514     Document Type: Article

References (47)

1. Hall, J.G. (1997) Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects. J. Pediatr. Orthop. B, 6, 159-166.
2. Bamshad, M., Jorde, L.B. and Carey, J.C. (1996) A revised and extended classification of the distal arthrogryposes. Am. J. Med. Genet., 65, 277-281.
3. Bamshad, M., Van Heest, A.E. and Pleasure, D. (2009) Arthrogryposis: a review and update. J. Bone Joint Surg., 91(Suppl 4), 40-46.
4. Oldfors, A. (2007) Hereditary myosin myopathies. Neuromuscul. Disord., 17, 355-367.
5. Toydemir, R.M., Rutherford, A., Whitby, F.G., Jorde, L.B., Carey, J.C. and Bamshad, M.J. (2006) Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Nat. Genet., 38, 561-565.
6. Gurnett, C.A., Desruisseau, D.M., McCall, K., Choi, R., Meyer, Z.I., Talerico, M., Miller, S.E., Ju, J.S., Pestronk, A., Conolly, A.M., Druley, T.E. et al. (2010) Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum. Mol. Genet., 19, 1165-1173.
7. Sung, S.S., Brassington, A.M., Grannatt, K., Rutherford, A., Whitby, F.G., Krakowiak, P.A., Jorde, L.B., Carey, J.C. and Bamshad, M. (2003) Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am. J. Hum. Genet., 72, 681-690.
8. Sung, S.S., Brassington, A.M., Krakowiak, P.A., Jorde, L.B. and Bamshad, M. (2003) Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am. J. Hum. Genet., 73, 212-214.
9. Ochala, J. (2008) Thin filament protein mutations associated with skeletal myopathies: defective regulation of muscle contraction. J. Mol. Med., 86, 1197-1204.
10. Laing, N.G., Dye, D.E., Wallgren-Pettersson, C., Richard, G., Monnier, N., Lillis, S., Winder, T.L., Lochmüller, H., Graziano, C., Mitrani-Rosenbaum, S. et al. (2009) Mutations and polymorphisms of the skeletal muscle a-actin gene (ACTA1). Hum. Mutat., 30, 1267-1277.
11. Lawlor, M.W., Ottenheijm, C.A., Lehtokari, V.L., Cho, K., Pelin, K., Walgren-Petersson, C., Granzier, H. and Beggs, A.H. (2011) Novel mutations in NEB cause abnormal nebulin expression and markedly impaired force generation in severe nemaline myopathy. Skeletal Muscle, 1, 23.
12. Romero, N.B., Monnier, L., Viollet, L., Cortay, A., Chevallay, M., Leroy, J.P., Lunardi, J. and Fardeau, M. (2003) Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain, 126, 2341-2349.
13. Riemersma, S., Vincent, A., Beeson, D., Newland, C., Hawke, S., Vernet-der Garadebian, B., Eymard, B. and Newsom-Davis, J. (1996) Association of arthrogryposis multiplex congenital with maternal antibodies inhibiting fetal acetylcholine receptor function. J. Clin. Inves., 98, 2538-2563.
14. Hoffmann, K., Muller, J.S., Stricker, S., Megarbane, A., Rajab, A., Lindner, T.H., Cohen, M., Chouery, E., Adaimy, L., Ghanem, I. et al. (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet., 79, 303-312.
15. Morgan, N.V., Brueton, L.A., Cox, P., Greally, M.T., Tolmie, J., Pasha, S., Aligliani, I.A., van Bokhoven, H., Marton, T., Al-Gazali, L. et al. (2006) Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet., 79, 390-395.
16. Vogt, J., Harrison, B.J., Spearman, H., Cossins, J., Vermeer, S., ten Cate, L.N., Morgan, N.V., Beeson, D. and Maher, E.R. Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients. Am. J. Hum. Genet., 82, 222-227.
17. Brownlow, S., Webster, R., Croxen, R., Brydson, M., Neville, B., Lin, J.P., Vincent, A., Newsom-Davis, J. and Beeson, D. (2001) Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita. J. Clin. Invest., 108, 125-130.
18. Vogt, J., Morgan, N.V., Marton, T., Maxwell, S., Harrison, B.J., Beeson, D. and Maher, E.R. (2009) Germline mutation in DOK7 associated with fetal akinesia deformation sequence. J. Med. Genet., 46, 338-340.
19. Michalk, A., Stricker, S., Becker, J., Rupps, R., Pantzar, T., Miertus, J., Botta, G., Naretto, V.G., Janetzki, C., Yqoob, N. et al. (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet., 82, 464-476.
20. Valdenaire, O., Richards, J.G., Faull, R.L.M. and Schweizer, A. (1999) XCE, a new member of the endothelin-converting enzyme and neutral endopeptidase family, is preferentially expressed in the CNS. Mol. Brain Res., 64, 211-221.
21. Kiryu-Seo, S., Sasaki, M., Yokohama, H., Nakagomi, S., Hirayama, T., Aoki, S., Wada, K. and Kiyama, H. (2000) Damage-induced neuronal endopeptidase (DINE) is a unique metallopeptidase expressed in response to neuronal damage and activates superoxide scavengers. Proc. Natl Acad. Sci. USA, 97, 4345-4350.
22. Zhang, Y., Luoh, S.M., Hon, L.S., Baertsch, R., Wood, W.I. and Zhang, Z. (2007) GeneHub-GEPIS: digital expression profiling for normal and cancer tissues based on an integrated gene database. Nucleic Acids Res., 35, W152-W158.
23. Valdenaire, O., Rohrbacher, E., Langeveld, A., Schweizer, A. and Meijers, C. (2000) Organization and chromosomal localization of the human ECEL1 (XCE) gene encoding a zinc metallopeptidase involved in the nervous control of respiration. Biochem. J., 346, 611-616.
24. Nagata, K., Kiryu-Seo, S. and Kiyama, H. (2006) Localization and ontogeny of damage-induced neuronal endopeptidase mRNA-expressing neurons in the rat nervous system. Neuroscience, 141, 299-310.
25. Oefner, C., D'Arcy, A., Hennig, M., Winkler, F.K. and Dale, G.E. (2000) Structure of human neutral endopeptidase (neprilysin) complexed with phosphoramidon. J. Mol. Biol., 296, 341-349.
26. Oefner, C., Roques, B.P., Fournie-Zaluski, M.C. and Dale, G.E. (2004) Structural analysis of neprilysin with various specific and potent inhibitors. Acta Crystallogr. D Biol. Crystallogr., D60, 392-396.
27. Oefner, C., Pierau, S., Schulz, H. and Dale, G.E. (2007) Structural studies of a bifunctional inhibitor of neprilysin and DPP-IV. Acta Crystallogr. D Biol. Crystallogr., D63, 975-981.
28. Benoit, A., Vargas, M.A., Desgroseillers, L. and Boileau, G. (2004) Endothelin-converting enzyme-like 1 (ECEL1) is present both in the plasma membrane and in the endoplasmic reticulum. Biochem. J., 380, 881-888.
29. Mercuri, E., Rutherford, M., Barnett, A., Foglia, C., Haataja, L., Counsell, S., Cowan, S. and Dubowitz, L. (2002) MRI lesions and infants with neonatal encephalopathy: is the apgar score predictive? Neuropediatrics, 33, 150-156.
30. Farrugia, M.E., Robson, M.D., Clover, L., Anslow, P., Newsom-Davis, J., Kennett, R., Hilton-Jones, D., Matthews, P.M. and Vincent, A. (2006) MRI and clinical studies of facial and bulbar muscle involvement in MuSK antibody-associated myasthenia gravis. Brain, 129, 1481-1492.
31. Bland, N.D., Pinney, J.W., Thomas, J.E., Turner, A.J. and Isaac, R.E. (2008) Bioinformatic analysis of the neprilysin (M13) family of peptidases reveals complex evolutionary and functional relationships. BMC Evol. Biol., 8, 16.
32. Nicholson, P., Yepiskoposyan, H., Metze, S., Zamudio Orozco, R., Kleinschmidt, N. and Mühlemann, O. (2010) Non sense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors. Cell. Mol. Life Sci., 67, 677-700.
33. Grantham, R. (1974) Amino acid difference formula to explain protein evolution. Science, 185, 862-864.
34. MacLeod, K.J., Fuller, R.S., Scholten, J.D. and Ahn, K. (2001) Conserved cysteine and tryptophan residues of the endothelin-converting enzyme-1 CXAW motif are critical for protein maturation and enzyme activity. J. Biol. Chem., 276, 30608-30614.
35. Dixon, P.H., Christie, P.T., Wooding, C., Trump, D., Grieff, M., Holm, I., Gertner, J.M., Schmidtke, J., Shah, B., Shaw, N. et al. (1998) Mutational analysis of PHEX gene in X-linked hypophosphatemia. J. Clin. Endocrinol. Metab., 83, 3615-3623.
36. Filisetti, D., Ostermann, G., von Bredow, M., Strom, T., Filler, G., Ehrich, J., Pannetier, S., Garnier, J.M., Rowe, P., Francis, F. et al. (1999) Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues. Eur. J. Hum. Genet., 7, 615-619.
37. Tyynismaa, H., Kaitila, I., Näntö-Salonen, K., Ala-Houhala, M. and Alitalo, T. (2000) Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets. Hum. Mutat., 15, 383-384.
38. Nagata, K., Kiryu-Seo, S., Maeda, M., Yoshida, K., Morita, T. and Kiyama, H. (2010) Damage-induced neuronal endopeptidase is critical for presynaptic formation of neuromuscular junctions. J. Neurosci., 30, 6954-6962.
39. Schweizer, A., Valdenaire, O., Köster, A., Lang, Y., Schmitt, G., Lenz, B., Bluethmann, H. and Rohrer, J. (1999) Neonatal lethality in mice deficient in XCE, a novel member of the endothelin-converting enzyme and neutral endopeptidase family. J. Biol. Chem., 274, 20450-20456.
40. Mishina, M., Takai, T., Imoto, K., Noda, M., Takahashi, T., Numa, S., Methfessel, C. and Sakmann, B. (1986) Molecular distinction between fetal and adult forms of muscle acetylcholine receptor. Nature, 321, 406-411.
41. Hesselmans, L.F., Jennekens, F.G., Van den Oord, C.J., Veldman, H. and Vincent, A. (1993) Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors. Anat. Rec., 236, 553-562.
42. Rump, A., Kasper, G., Hayes, C., Wen, G., Starke, H., Liehr, T., Lehmann, R., Lagemann, D. and Rosenthl, A. (2001) Complex arrangement of genes within a 220-kb region of double-duplicated DNA on human 2q37.1. Genomics, 73, 50-55.
43. Ruschendorf, F. and Nurnberg, P. (2005) ALOHOMORA: a tool for linkage analysis using 10K SNP array data. Bioinformatics, 21, 2123-2125.
44. Abecasis, G.R., Cherny, S.S., Cookson, W.O. and Cardon, L.R. (2002) Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat. Genet., 30, 97-101.
45. Jarraya, M., Quijano-Roy, S., Monnier, N., Béhin, A., Avila-Smirnov, D., Romero, N.B., Allamand, V., Richard, P., Barois, A., May, A. et al. (2012) Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations. Neuromuscul. Disord., 22, S137-147.
46. Bevilacqua, J.A., Monnier, N., Bitoun, M., Eymard, B., Ferreiro, A., Monges, S., Lubieniecki, F., Taratuto, A.L., Laquerrière, A., Claeys, K.G. et al. (2011) Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol, 37, 271-284.
47. Tidswell, T. and Pitt, M.C. (2007) A new analytical method to diagnose congenital myasthenia with stimulated single-fiber electromyography. Muscle Nerve, 35, 107-110.