Isolation of a new clathrin heavy chain gene with muscle-specific expression from the region commonly deleted in velo-cardio-facial syndrome

Human Molecular Genetics

Volumn 5, Issue 5, 1996, Pages 617-624

  Sirotkin, Howard ^a   Morrow, Bernice ^a   DasGupta, Ruchira ^a,d   Goldberg, Rosalie ^b   Patanjali, Sankhavaram R ^c   Shi, Guangping ^a   Cannizzaro, Linda ^a   Shprintzen, Robert ^b   Weissman, Sherman M ^c   Kucherlapati, Raju ^a  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b MONTEFIORE MEDICAL CENTER   (United States)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d DANA FARBER CANCER INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CLATHRIN; COMPLEMENTARY DNA; IMMUNOGLOBULIN HEAVY CHAIN;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; FETUS; GENE EXPRESSION; GENE ISOLATION; GENE LOCUS; HEMIZYGOSITY; HUMAN; HUMAN CELL; IMMUNOGLOBULIN GENE; MUSCLE WEAKNESS; NONHUMAN; PALATOPHARYNGEAL INCOMPETENCE; PHENOTYPE; PRIORITY JOURNAL; RAT; SKELETAL MUSCLE;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AUTORADIOGRAPHY; BASE SEQUENCE; BLOTTING, NORTHERN; BLOTTING, SOUTHERN; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 22; CLATHRIN; DNA, COMPLEMENTARY; FACE; GENE EXPRESSION REGULATION, DEVELOPMENTAL; HEART DEFECTS, CONGENITAL; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUSCLES; PHARYNX; POLYMERASE CHAIN REACTION;

EID: 9244234494     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.5.617     Document Type: Article

References (54)

1. Shprintzen, R.J., Goldberg, R.B., Lewin, M.L., Sidoti, E.J., Berkman, M.D., Argamaso, R.V. and Young, D. (1978) A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome. Cleft Palate J., 15, 56-62.
2. Scambler, P.J. (1993) Deletions of human chromosome 22 and associated birth defects. Curr. Opin. Genet. Dev., 3, 432-437.
3. Williams, M.A., Shprintzen, R.J. and Goldberg, R.B (1985) Male-to-male transmission of the velo-cardio-facial syndrome: a case report and review of 60 cases. J. Craniofacial Genet. Devel. Biol., 5, 175-180.
4. Shprintzen, R.J., Goldberg, R.B., Young, D. and Wolford, L. (1981) The velo-cardio-facial syndrome: a clinical and genetic analysis. Pediatrics, 67, 167-172.
5. Shprintzen, R., Siegel-Sadewirz, V.L., Amato J. and Goldberg, R.B. (1985) Retrospective diagnoses of previously missed syndromic disorders amongst 1,000 patients with cleft lip, cleft palate or both. Birth Defects, 21, 85-91.
6. Young, D., Shprintzen, R. and Goldberg, R. (1980) Cardiac malformations in the velo-cardio-facial syndrome. Am. J. Cardiol., 46, 643-647.
7. Jedele, K.B., Michels, V.V., Puga, F.J. and Feldt, R.H. (1992) Velo-cardio-facial syndrome associated with ventricular septal defect, pulmonary atresia, and hypoplastic pulmonary arteries. Pediatrics, 89, 915-919.
8. Lipson, A., Yuille, D., Angel, M., Thomson, P., Vanderwoord, J. and and Beckenham, E. (1991) Velo-cardio-facial syndrome: an important syndrome for dismorphologists to recognize. J. Med. Genet., 28, 133-137.
9. Arvystas, M. and Shprintzen, R J. (1984) Craniofacial morphology in the velo-cardio-facial syndrome. J. Craniofacial Genet. Devel. Biol., 4, 39-45.
10. Karayiorgou, M., Morris, M., Morrow, B., Shprintzen, R., Goldberg, R., Borrow, J., Gos, A., Nestadt, G., Wolyniec, P., Lasseter, V., Eisen, H., Childs, B , Kazazian, H., Kucherlapati, R., Antonarakis, S., Pulver, A. and Housman, D. (1995) Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc. Natl Acad. Sci. USA, 92, 7612-7616.
11. Pulver, A.E., Nestadt, G., Goldberg, R., Shprintzen, R.J., Lamacz, M., Wolyniec, P.S., Morrow, B., Karayiorgou, M., Antonarakis, S.E., Housman, D. et al. (1994) Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J. Nerv. Mem Dis., 182, 476-478.
12. Meinecke, P., Beemer, F A., Schinzel, A. and Kushnick, T. (1986) The velo-cardio-facial (Shprintzen) syndrome. Clinical variability in eight patients. Eur. J. Pediatr., 145, 539-544.
13. Goldberg, R., Motzkin, B., Marion, R., Scambler, P.J. and Shprintzen, R.J. (1993) Velo-cardio-facial syndrome: a review of 120 patients. Am. J. Med. Genet., 45, 313-319.
14. Wilson, T.A , Blethen, S.L., Vallone, A., Alenick, D S., Nolan, P., Katz, A., Amorillo, T.P., Goldmuntz, E., Emanuel, B.S. and Driscoll, D.A. (1993) DiGeorge anomaly with renal agenesis in infants of mothers with diabetes. Am. J. Med. Genet., 47, 1078-1082.
15. DiGeorge, A. (1965) A new concept of the cellular basis of immunity. J. Pediatr., 67, 907.
16. Wilson, D.I., Cross, I.E., Goodship, J.A., Brown, J., Scambler, P.J., Bain, H.H., Taylor, J.F., Walsh, K., Bankier, A., Burn, J. and Wolstenholme, J. (1992) A prospective cytogenetic study of 36 cases of DiGeorge syndrome. Am. J. Hum. Genet., 51, 957-963.
17. Greenberg, F. (1993) DiGeorge syndrome: an historical review of clinical and cytogenetic features. J. Med. Genet., 30, 803-806.
18. de la Chapelle, A., Herva, R , Koivisto, M. and Aula, P (1981) A deletion in chromosome 22 can cause DiGeorge syndrome. Hum. Genet., 57, 253-256.
19. Kelley, R.I., Zackai, E.H., Emanuel, B.S., Kistenmacher, M., Greenberg, F. and Punnett, H.H. (1982) The association of the DiGeorge anomalad with partial monosomy of chromosome 22. J. Pediatr., 101, 197-200
20. Augusseau, S., Jouk, S., Jalbert, P. and Prieur, M. (1986) DiGeorge syndrome and 22q11 rearrangements. Hum. Genet., 74, 206
21. Rouleau, G.A., Haines, J.L., Bazanowski, A , Colella-Crowley, A., Trofatter, J.A., Wexler, N.S., Conneally, P.M. and Gusella, J.F. (1989) A genetic linkage map of the long arm of human chromosome 22. Genomics, 4, 1-6.
22. Driscoll, D.A., Spinner, N.B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Goldberg, R.B., Shprintzen, R.J., Saal, H.M., Zonana, J., Jones, M.C. et al. (1992) Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet., 44, 261-268.
23. Wilson, D.I., Goodship, J.A., Burn, J., Cross, I.E. and Scambler, P.J. (1992) Deletions within chromosome 22q11 in familial congenital heart disease. Lancet, 340, 573-575.
24. Scambler, P.J., Kelly, D., Lindsay, E., Williamson, R., Goldberg, R., Shprintzen, R., Wilson, D.I., Goodship, J.A., Cross, I.E. and Burn, J. (1992) Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus. Lancet, 339, 1138-1139.
25. Kelly, D., Goldberg, R., Wilson, D., Lindsay, E., Carey, A., Goodship, J., Burn, J., Cross, I., Shprintzen, R.J. and Scambler, P.J. (1993) Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11. Am. J. Med. Genet., 45, 308-312.
26. Driscoll, D.A., Salvin, J., Sellinger, B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H. and Emanuel, B.S. (1993) Prevalence of 22q11 microdeletion in DiGeorge and velocardiofacial syndromes: implications for generic counselling and prenatal diagnosis. J. Med. Genet., 30, 813-817.
27. Lindsay, E A., Halford, S., Wadey, R., Scambler, P.J. and Baldini, A. (1993) Molecular cytogenetic characterization of the DiGeorge syndrome region using fluorescence in situ hybridization. Genomics, 17, 403-407.
28. Morrow, B., Goldberg, R., Carlson, C., Das Gupta, R., Sirotkin, H , Collins, J., Dunham, I., O'Donnell, H., Scambler, P., Shprintzen, R. and Kucherlapati, R. (1995) Molecular definition of the 22q11 deletions in velo-cardio-facial syndrome. Am. J. Hum. Genet., 56, 1391-1403.
29. Doge, G.R., Kovalszky, I., McBride, O W., Yi, H.F., Chu, M., Saitta, B., Stokes, D. and Iozzo, R V. (1991) Human clathrin heavy chain (CLTL): partial molecular cloning, expression, and mapping of the gene to human chromosome 17q11-qter. Genomics, 11, 174-178.
30. Pley, U. and Parham, P. (1993) Clathrin: its role in receptor-mediated vesicular transport and specialized functions in neurons. Crit. Rev Biochem. Mol. Biol., 28, 431-464.
31. Collins, J., Cole, C., Smink, L., Garret, C., Leversham, M., Sodeerlund, C., Maslen, G., Everett, L., Rice, K., Coffey, A., Gregory, S., Gwilliam, R., Dunham, A., Davies, A., Hassock, S., Todd, C., Lehrach, H., Hulsebos, T., Weissenbach, J., Morrow, B., Kucherlapati, R , Wadey, R., Scambler, P., Kim, U., Simon, M., Peyrard, M., Xie, Y., Carter, N., Durbin, R., Dumanski, J., Bentley, D. and Dunham, I. (1995) A high density contig map of human chromosome 22. Nature, 337, 367-379.
32. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
33. Parimoo, S., Patanjali, S.R., Shukla, H., Chaplin, D.D. and Weissman, S.M. (1991) cDNA selection: efficient PCR approach for the selection of cDNAs encoded in large chromosomal DNA fragments. Proc. Natl Acad. Sci. USA, 88, 9623-9627.
34. Parimoo, S., Kolluri, R. and Weissman, S.M. (1993) cDNA selection from total yeast DNA containing YACs. Nucleic Acids Res., 21, 4422-4423.
35. Wade, R., Eddy, R., Shows, T. B. and Kedes, L. (1990) cDNA sequence, tissue-specific expression, and chromosomal mapping of the human slow-twitch skeletal muscle isoform of troponin 1. Genomics, 7, 346-357.
36. Apte, A. and Stebert, P.D. (1993) Anchor ligated cDNA libraries: a technique for generating a cDNA library for the immediate cloning of the 5′ ends of mRNAs. BioTechniques, 15, 890-893.
37. Kozak, M. (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryoac ribosomes. Cell., 44, 283-292.
38. Kirchhausen, T., Harrison, S.C., Chow, E.P., Mattaliano, R.J., Ramachandran, K.L., Smart, J. and Brosius, J. (1987) Clathrin heavy chain: molecular cloning and complete primary structure. Proc. Natl Acad. Sci. USA, 84, 8805-8809.
39. Hagenbuchle, O., Bovey, R. and Young, R. (1980) Tissue-specific expression of mouse α-amylase: nucleotide sequence of isoenzyme mRNAs from pancreas and salivary gland. Cell, 21, 179-187.
40. Jung, A., Sippel, A., Grez, M. and Shultz, G. (1980) Exons encode functional and structural units of chicken lysozyme. Proc. Natl Acad. Sci. USA, 77, 5759-5763.
41. Liu, S., Wong, M., Craik, C. and Brodsky, F. (1995) Regulation of clathrin assembly and trimerization defined using recombinant triskelion hubs. Cell, 83,
42. Nathke, I.S , Heuser, J., Lupas, A., Stock, J., Turck, C.W. and Brodsky, F.M. (1992) Folding and trimerization of clathrin subunits at the triskelion hub. Cell. 68, 899-910.
43. Lupas, A., Van Dyke, M., and Stock, J. (1991) Predicting coiled coils from protein sequences. Science, 252, 1162-1164.
44. Brodsky, F.M. (1985) Clathrin structure characterized with monoclonal antibodies. II. Identification of in vivo forms of clathrin. J. Cell Biol., 101, 2055-2062.
45. Brodsky, F.M. (1985) Clathrin structure characterized with monoclonal antibodies. I. Analysis of multiple antigenic sites. J. Cell Biol., 101, 2047-2054.
46. Kaufman, S.J., Bielser, D. and Foster, R.F. (1990) Localization of anti-clathrin antibody in the sarcomere and sensitivity of myofibril structure to chloroquine suggest a role for clathrin in myofibril assembly. Exp. Cell Res , 191, 227-238.
47. Lemmon, S.K., Pellicena-Palle, A., Conley, K. and Freund, C.L. (1991) Sequence of the clathrin heavy chain from Saccharomyces cerevisiae and requirement of the COOH terminus for clathrin function. J. Cell Biol., 112, 65-80.
48. Payne, G.S. and Schekman, R. (1985) A test of clathrin function in protein secretion and cell growth. Science, 230, 1009-1014.
49. Lemmon, S.K., Sens, D.A. and Buse, M.G. (1985) Insulin stimulation of glucose transport and metabolism in a human Wilms' tumor-derived myoblast-like cell line: modulation of hormone effects by glucose deprivation. J. Cell. Physiol., 125, 456-464.
50. Munn, A.L., Silveira, L., Elgort, M and Payne, G.S. (1991) Viability of clathrin heavy-chain-deficient Saccharomyces cerevisiae is compromised by mutations at numerous loci: implications for the suppression hypothesis Mol. Cell. Biol., 11, 3868-3878.
51. O'Halloran, T.J. and Anderson, R.G. (1992) Characterization of the clathrin heavy chain from Dictyostelium discoideum. DNA Cell Biol., 11, 321-330.
52. Bazinet, C., Katzen, A.L , Morgan, M., Mahowald, A.P. and Lemmon, S.K. (1993) The Drosophila clathrin heavy chain gene: clathrin function is essential in a multicellular organism. Genetics, 134, 1119-1134.
53. Dimario, P and Mahowald, A (1987) Female sterile (1) yolkless: a recessive female sterile mutation in Drosophila melanogaster with depressed numbers of coated pits and coated vesicles within the developing oocytes. J. Cell Biol., 105, 199-206.
54. McLean, S.D., Saal, H.M., Spinner, N.B., Emanuel, B.S. and Driscoll, D.A. (1993) Velo-cardio-facial syndrome. Intrafamilial variability of the phenotype. Am. J. Dis. Child., 147, 1212-1216.