The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome

Genomics

Volumn 64, Issue 3, 2000, Pages 277-285

  Riazi, M Ali ^a,b   Brinkman Mills, Polly ^b   Nguyen, Thuan ^c   Pan, Huaqin ^c   Phan, Stacey ^c   Ying, Fu ^c   Roe, Bruce A ^c   Tochigi, Junko ^d   Shimizu, Yoshiko ^d   Minoshima, Shinsei ^e   Shimizu, Nobuyoshi ^e   Buchwald, Manuel ^a   McDermid, Heather E ^b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF ALBERTA   (Canada)

^c UNIVERSITY OF OKLAHOMA   (United States)

^d KYORIN UNIVERSITY   (Japan)

^e KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GROWTH FACTOR;

ARTICLE; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CRANIAL NERVE; DEVELOPMENTAL DISORDER; GENE EXPRESSION; GENE ISOLATION; GENE MAPPING; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RNA SPLICING; SEQUENCE ANALYSIS;

ANASPIDEA; APLYSIA CALIFORNICA; FELIS CATUS; INSECTA; LEPUS; MAMMALIA; PEREGRINA; SARCOPHAGA PEREGRINA; SARCOPHAGIDAE;

EID: 0342749296     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1999.6099     Document Type: Article

References (35)

1. +)-ATPase localizes close to the centromere on human chromosome 22. Hum. Mol. Genet. 3:1994;335-339.
2. Breitschopf H., Suchanek G., Gould R. M., Colman D. R., Lassmann H. In situ hybridization with digoxigenin-labeled probes: Sensitive and reliable detection method applied to myelinating rat brain. Acta Neuropathol. 84:1992;581-587.
3. Buckler A. J., Chang D. D., Graw S. L., Brook J. D., Haber D. A., Sharp P. A., Housman D. E. Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA. 88:1991;4005-4009.
4. Budarf M. L., Emanuel B. S. Progress in the autosomal segmental aneusomy syndromes (SASs): Single or multi-locus disorders. Hum. Mol. Genet. 6:1997;1657-1665.
5. de Jong P. J., Yokobata K., Chen C., Lohman F., Pederson L., McNich J., Van Dilla M. Human chromosome-specific partial digest libraries in lambda and cosmid vectors. Cytogenet. Cell. Genet. 51:1989;985.
6. Dubey R. K., Gillespie D. G., Mi Z., Jackson E. K. Exogenous and endogenous adenosine inhibits fetal calf serum-induced growth of rat cardiac fibroblasts: Role of A2B receptors. Circulation. 96:1997;2656-2666.
7. Dubey R. K., Gillespie D. G., Mi Z., Suzuki F., Jackson E. K. Smooth muscle cell-derived adenosine inhibits cell growth. Hypertension. 27:1996;766-773.
8. Dusseau J. W., Hutchins P. M., Malbasa D. S. Stimulation of angiogenesis by adenosine on the chick chorioallantoic membrane. Circ. Res. 59:1986;163-170.
9. Eichler E. E., Budarf M. L., Rocchi M., Deaven L. L., Doggett N. A., Baldini A., Nelson D. L., Mohrenweiser H. W. Interchromosomal duplications of the adrenoleukodystrophy locus: A phenomenon of pericentromeric plasticity. Hum. Mol. Genet. 6:1997;991-1002.
10. Eikenboom J. C., Vink T., Briet E., Sixma J. J., Reitsma P. H. Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence. Proc. Natl. Acad. Sci. USA. 91:1994;2221-2224.
11. Ethier M. F., Chander V., Dobson J. G. Jr. Adenosine stimulates proliferation of human endothelial cells in culture. Am. J. Physiol. 265:1993;H131-H138.
12. Footz T. K., Birren B., Minoshima S., Asakawa S., Shimizu N., Riazi M. A., McDermid H. E. The gene for death agonist BID maps to the region of human 22q11.2 duplicated in cat eye syndrome chromosomes and to mouse chromosome 6. Genomics. 51:1998;472-475.
13. Franco R., Casado V., Ciruela F., Saura C., Mallol J., Canela E. I., Lluis C. Cell surface adenosine deaminase: Much more than an ectoenzyme. Prog. Neurobiol. 52:1997;283-294.
14. Freedom R. M., Gerald P. S. Congenital cardiac disease and the "cat eye" syndrome. Am. J. Dis. Child. 126:1973;16-18.
15. Frohman M. A., Dush M. K., Martin G. R. Rapid production of full-length cDNAs from rare transcripts: Amplification using a single gene-specific oligonucleotide primer. Proc. Natl. Acad. Sci. USA. 85:1988;8998-9002.
16. Homma K., Matsushita T., Natori S. Purification, characterization, and cDNA cloning of a novel growth factor from the conditioned medium of NIH-Sape-4, an embryonic cell line of Sarcophaga peregrina (flesh fly). J. Biol. Chem. 271:1996;13770-13775.
17. Johnson A., Minoshima S., Asakawa S., Shimizu N., Shizuya H., Roe B. A., McDermid H. E. A 1.5-Mb contig within the cat eye syndrome critical region at human chromosome 22q11.2. Genomics. 57:1999;306-309.
18. Kawasaki K., Minoshima S., Nakato E., Shibuya K., Shintani A., Schmeits J. L., Wang J., Shimizu N. One-megabase sequence analysis of the human immunoglobulin lambda gene locus. Genome Res. 7:1997;250-261.
19. Knoll J. H., Asamoah A., Pletcher B. A., Wagstaff J. Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome. Am. J. Med. Genet. 55:1995;221-224.
20. Kozak M. The scanning model for translation: An update. J. Cell Biol. 108:1989;229-241.
21. Kozak M. An analysis of vertebrate mRNA sequences: Intimations of translational control. J. Cell Biol. 115:1991;887-903.
22. Kyte J., Doolittle R. F. A simple method for displaying the hydropathic character of a protein. J. Mol. Biol. 157:1982;105-132.
23. Makalowski W., Zhang J., Boguski M. S. Comparative analysis of 1196 orthologous mouse and human full-length mRNA and protein sequences. Genome Res. 6:1996;846-857.
24. McDermid H. E., Duncan A. M., Brasch K. R., Holden J. J., Magenis E., Sheehy R., Burn J., Kardon N., Noel B., Schinzel A. Characterization of the supernumerary chromosome in cat eye syndrome. Science. 232:1986;646-648.
25. McDermid H. E., McTaggart K. E., Riazi M. A., Hudson T. J., Budarf M. L., Emanuel B. S., Bell C. J. Long-range mapping and construction of a YAC contig within the cat eye syndrome critical region. Genome Res. 6:1996;1149-1159.
26. Mears A. J., el-Shanti H., Murray J. C., McDermid H. E., Patil S. R. Minute supernumerary ring chromosome 22 associated with cat eye syndrome: Further delineation of the critical region. Am. J. Hum. Genet. 57:1995;667-673.
27. Meininger C. J., Schelling M. E., Granger H. J. Adenosine and hypoxia stimulate proliferation and migration of endothelial cells. Am. J. Physiol. 255:1988;H554-H562.
28. Mohamedali K. A., Kurz L. C., Rudolph F. B. Site-directed mutagenesis of active site glutamate-217 in mouse adenosine deaminase. Biochemistry. 35:1996;1672-1680.
29. Nielsen H., Engelbrecht J., Brunak S., von Heijne G. A neural network method for identification of prokaryotic and eukaryotic signal peptides and prediction of their cleavage sites. Int. J. Neural Syst. 8:1997;581-599.
30. Regnier V., Meddeb M., Lecointre G., Richard F., Duverger A., Nguyen V. C., Dutrillaux B., Bernheim A., Danglot G. Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences during hominoid evolution suggest a process of pericentromeric interchromosomal transposition. Hum. Mol. Genet. 6:1997;9-16.
31. Riazi M. A., Brinkman-Mills P., Johnson A., Naylor S. L., Minoshima S., Shimizu N., Baldini A., McDermid H. E. Identification of a putative regulatory subunit of a calcium-activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2. Genomics. 62:1999;90-94.
32. Schinzel A., Schmid W., Fraccaro M., Tiepolo L., Zuffardi O., Opitz J. M., Lindsten J., Zetterqvist P., Enell H., Baccichetti C., Tenconi R., Pagon R. A. The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no. 22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum. Genet. 57:1981;148-158.
33. Sossin W. S., Kreiner T., Barinaga M., Schilling J., Scheller R. H. A dense core vesicle protein is restricted to the cortex of granules in the exocrine atrial gland of Aplysia california. J. Biol. Chem. 264:1989;16933-16940.
34. Sternberg N. Bacteriophage P1 cloning system for the isolation, amplification, and recovery of DNA fragments as large as 100 kilobase pairs. Proc. Natl. Acad. Sci. USA. 87:1990;103-107.
35. Wiginton D. A., Kaplan D. J., States J. C., Akeson A. L., Perme C. M., Bilyk I. J., Vaughn A. J., Lattier D. L., Hutton J. J. Complete sequence and structure of the gene for human adenosine deaminase. Biochemistry. 25:1986;8234-8244.