Cloning a new human gene from chromosome 21q22.3 encoding a glutamic acid-rich protein expressed in heart and skeletal muscle

Human Genetics

Volumn 99, Issue 3, 1997, Pages 387-392

  Scartezzini, Paolo ^a   Egeo, Aliana ^a   Colella, Stefano ^a   Fumagalli, Prisca ^b   Arrigo, Patrizio ^c   Nizetic, Dean ^d   Taramelli, Roberto ^e,f   Rasore Quartino, Alberto ^a  

^a GALLIERA HOSPITAL   (Italy)

^b Dipto Genet Biol Microrganismi   (Italy)

^c CNR   (Italy)

^d UNIVERSITY OF LONDON   (United Kingdom)

^e UNIVERSITY OF CATANIA   (Italy)

^f SAN RAFFAELE HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GLUTAMIC ACID; PROLINE; PROTEIN;

ARTICLE; CHROMOSOME 21Q; CONSENSUS SEQUENCE; DOWN SYNDROME; GENE MAPPING; HEART; HUMAN; MOLECULAR CLONING; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; SKELETAL MUSCLE;

ADULT; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; CLONING, MOLECULAR; CRICETINAE; CRICETULUS; DNA, COMPLEMENTARY; FETUS; GENE EXPRESSION; GLUTAMIC ACID; HUMANS; HYBRID CELLS; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SKELETAL; MYOCARDIUM; PROTEINS; SRC HOMOLOGY DOMAINS;

EID: 0031053068     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050377     Document Type: Article

References (30)

1. Buckler AJ, Chang DD, Grau SL, Brook JD, Haber DA, Sharp PA, Housman DE (1991) Exon amplification: a strategy to isolate mammalian genes based on RNA splicing. Proc Natl Acad Sci USA 88: 4005-4009
2. Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal Biochem 162: 156-159
3. Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G, Gervy P, LeGall I, Soularue P, Grinas L, Bougueleret L, Bellanne-Chantelot C, Lacroix B, Barillot E, Gesnouin P, Pook S, Vaysseix G, Frelat G, Schmitz A, Sambucy GL, Bosch A, Estivill X, Weissenbach J, Vignal A, Riethman H, Cox D, Patterson D, Gardiner K, Hattori M, Sakaki Y, Ichikawa H, Ohki M, Le Paslier D, Heilig R, Antonarakis S, Cohen D (1992) A continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359: 380-387
4. Cohen GB, Ren R, Baltimore D (1995) Modular binding domains in signal transduction proteins. Cell 80: 237-248
5. Delabar JM, Théophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, N(el B, Sinet PM (1993) Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1:114-124
6. Duyk GM, Kim S, Myers RM, Cox DR (1990) Exon trapping: a genetic screen to identify candidate transcribed sequences in cloned mammalian genomic DNA. Proc Natl Acad Sci USA 87: 8995-8999
7. Epstein CJ (1986) The consequences of chromosomes imbalance: principles, mechanism and models. Cambridge University Press, Cambridge
8. Epstein CJ, Korenberg JR, Annerèn G, Antonarakis SE, Aymé S, Courchesne E, Epstein LB, Fowler A, Groner Y, Huret JL, Kemper TL, Lott IT, Lubin BH, Magenis E, Opitz JM, Patterson D, Priest JH, Pueschel SM, Rapoport SI, Sinet PM, Tanzi RE, Cruz F de la (1991) Protocols to establish genotype-phenoype correlation in Down syndrome. Am J Hum Genet 49: 207-235
9. Fisher E, Scambler P (1994) Human haploinsufficiency - one for sorrow, two for joy. Nat Genet 7: 5-7
10. Frohman MA, Dush MK, Martin GR (1988) Rapid production of full-length cDNAs from rare transcripts: amplification using a single gene specific oligonucleotide primer. Proc Natl Acad Sci USA 85: 8998-9002
11. Fuentes JJ, Pritchard MA, Planas AM, Bosch A, Ferrer I, Estivill X (1995) A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Hum Mol Genet 4: 1935-1944
12. Hassold T, Jacobs P (1984) Trisomy in man. Annu Rev Genet 18: 69-97
13. Hubert R, Huo Y, Mitchell S, Yamakawa K, Chen XN, Gadomski C, Noya D, Sun ZG, Kim UJ, Shizuya H, Chen C, Fannin S, Jong P de, Simon M, Korenberg JR (1995) Down syndrome congenital heart disease: physical and transcriptional mapping of the candidate region using BACs and PACs. Am J Hum Genet (Suppl) 57: A13-A61
14. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham JM, Hugdins L, McGillivray B, Miyazaki K, Ogasawara N, Park JP, Pagon R, Pueschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T (1994) Down syndrome phenotypes: the consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91: 4997-5001
15. Kozak M (1986) Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes. Cell 44: 283-292
16. Lejeune J, Gautier M, Turpin R (1959) Etude des chromosomes somatiques de neufs enfants mongoliens. CR Acad Sci III 248: 1721-1722
17. Lovett M, Kere J, Hinton LM (1991) Direct selection: a method for the isolation of cDNAs encoded by large genomic regions. Proc Natl Acad Sci USA 88: 9628-9632
18. Lucente D, Chen HM, Shea D, Samec SN, Rutter M, Chrast R, Rossier C, Buckler A, Antonarakis SE, McCormick MK (1995) Localization of 102 exons to a 2.5 Mb region involved in Down syndrome. Hum Mol Genet 4: 1305-1311
19. Lupas A, Van Dyke M, Stock J (1991) Predicting coiled coils from protein sequences. Science 252: 1162-1164
20. McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu S, Tranebjserg L, Mikkelsen M, Watkins PC, Antonarakis SE (1989) Molecular genetic approach to the characterization of the Down syndrome region of chromosome 21. Genomics 5: 325-331
21. Morgan JG, Dolganov GM, Robbins SE, Hinton LM, Lovett M (1992) The selective isolation of novel cDNAs encoded by the regions surrounding the human interleukine 4 and 5 genes. Nucleic Acids Res 20: 5173-5178
22. Nizetic D, Gellen L, Hamvas RMJ, Mott R, Grigoriev A, Vatcheva R, Zehetner G, Yaspo ML, Dutriaux A, Lopes C, Delabar JM, Van Broeckhoven C, Potier MC, Lehrach H (1994) An integrated YAC-overlap and 'cosmid-pocket' map of the human chromosome 21. Hum Mol Genet 3: 759-770
23. Parimoo S, Patanjali SR, Shukla H, Chaplin DD, Weissman SM (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
24. Peterson A, Patil N, Robbins C, Wang L, Cox DR, Myers RM (1994) A transcript map of the Down syndrome critical region on chromosome 21. Hum Mol Genet 3: 1735-1742
25. Rahmani Z, Blouin JL, Creau-Goldberg N, Watkins PC, Mattei JF, Poissonnier M, Prieur M, Chettouh Z, Nicole A, Aurias A, Sinet PM, Delabar JM (1989) Critical role of the D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Proc Natl Acad Sci USA 86: 5958-5962
26. Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd ed., Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
27. Tassone F, Hongxia X, Burkin H, Weissman S, Gardiner K (1995) cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflection of genome organization. Hum Mol Genet 4: 1509-1518
28. Wang Z, Rossman TG (1994) Isolation of DNA fragments from agarose gel by centrifugation. Nucleic Acids Res 22: 2862-2863
29. Yaspo ML, Gellen L, Mott R, Korn B, Nizetic D, Poustka AM, Lehrach H (1995) Model for a transcript map of human chromosome 21: isolation of new coding sequences from exon and enriched cDNA libraries. Hum Mol Genet 4: 1291-1304
30. Yu H, Chen JK, Feng S, Delgarno DC, Brauer AW, Schreiber SL (1994) Structural basis for the binding of proline-rich peptides to SH3 domains. Cell 76: 933-945