Isolation of a human gene (HES1) with homology to an Escherichia coli and a zebrafish protein that maps to chromosome 21q22.3

Human Genetics

Volumn 99, Issue 5, 1997, Pages 616-623

  Scott, Hamish S ^a   Chen, Haiming ^a   Rossier, Colette ^a   Lalioti, Maria D ^a   Antonarakis, Stylianos E ^a  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MESSENGER RNA; PROTEIN;

ARTICLE; CHROMOSOME 21Q; COSMID; ESCHERICHIA COLI; EXON; GENE; GENE EXPRESSION; GENE ISOLATION; GENE MAPPING; HEART; HUMAN; MITOCHONDRION; MUSCLE; NUCLEOTIDE SEQUENCE; OPEN READING FRAME; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; TISSUE DISTRIBUTION; ZEBRA FISH;

AMINO ACID SEQUENCE; ANIMALS; BACTERIAL PROTEINS; BASE SEQUENCE; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 21; DNA PRIMERS; ESCHERICHIA COLI; ESCHERICHIA COLI PROTEINS; EXONS; FEMALE; FETUS; GENE EXPRESSION; HOMEODOMAIN PROTEINS; HUMANS; INFANT; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; ORGAN SPECIFICITY; PLACENTA; POLYMERASE CHAIN REACTION; PREGNANCY; PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY, AMINO ACID; SEQUENCE TAGGED SITES; ZEBRAFISH;

EID: 0030983731     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050416     Document Type: Article

References (40)

1. Aaltonen J, Bjorses P, Sandkuijl L, Perheentupa J, Peltonen L (1994) An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21. Nat Genet 8:83-87
2. Adams MD, et al (1995) Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence Nature 377(Suppl):3-174
3. Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ (1990) Basic local alignment search tool. J Mol Biol 215:403-410
4. Antonarakis SE (1993) Human chromosome 21: genome mapping and exploration, circa 1993. Trends Genet 9:142-148
5. Boguski MS (1995) The turning point in genome research. Trends Biochem Sci 20:295-296
6. Boguski MS, Gregory D, Schuler GD (1995) ESTablishing a human transcript map. Nat Genet 10:369-371
7. Bonne-Tamir B, Destefano AL, Briggs CE, Adair R, Franklyn B, Weiss S, Korostishevsky M, Frydman M, Baldwin CT, Farrer LA (1996) Linkage of congenital recessive deafness (gene DFNB10) to chromosome 21q22.3. Am J Hum Gen 58:1254-1259
8. Chen HM, Chrast R, Rossier C, Morris MA, Lalioti MD, Antonarakis SE (1996) Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping. Genome Res 6:747-760
9. Cheng JF, Boyartchuk V, Zhu YW (1994) Isolation and mapping of human chromosome 21 cDNA - progress in constructing a chromosome 21 expression map. Genomics 23:75-84
10. 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, Schmilz A, Sambucy JL, 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 SE, Cohen D (1992) Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359:380-387
11. Detera-Wadleigh SD, Badner JA, Goldin LR, Berrettini WH, Sanders AR, Rollins DY, Turner G, Moses T, Haerian H, Muniec D, Nurnberger JI, Gershon ES (1996) Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q. Am J Hum Gen 58:1279-1285
12. Devereux J, Haeberli P, Smithies O (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res 12:387-395
13. Henikoff S, Henikoff JG (1994) Protein family classification based on searching a database of blocks. Genomics 19:97-107
14. Ichikawa H, Hosoda F, Arai Y, Shimizu K, Ohira M, Ohki M (1993) A NotI restriction map of the entire long arm of human chromosome 21. Nat Genet 4:361-366
15. Korenberg JR, Chen X-N, Mitchell S, Fannin S, Gerwehr S. Cohen D, Chumakov I (1995) A high-fidelity physical map of human chromosome 21q in yeast artificial chromosomes. Genome Res 5:427-443
16. Lafrenière RG, De Jong P, Rouleau GA (1995) A 405-kb cosmid contig and HindIII restriction map of the progressive myoclonus epilepsy type 1 (EPM1) candidate region in 21q22.3. Genomics 29:288-290
17. Lalioti MD, Chen HM, Rossier C, Shafaatian R, Reid JD, Antonarakis SE (1996) Cloning the cDNA of human PWP2, which encodes a protein with WD repeats and maps to 21q22.3. Genomics 35:321-327
18. Lehesjoki AE, Koskiniemi M, Norio R, Tirrito S, Sistonen P, Lander E, De la Chapelle A (1993) Localisation of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet 2:1229-1234
19. Lennon GG, Auffray C, Polymeropoulos M, Soares MB (1996) The I.M.A.G.E. consortium: an integrated molecular analysis of genomes and their expression. Genomics 33:151-152
20. Lucente D, Chen HM, Shea D, Samec SN, Rutter M, Chrast R, Rossier C, Buckler A, Antonarakis SE, McCormick MK (1995) Localisation of 102 exons to a 2.5 Mb region involved in Down syndrome. Hum Mol Genet 4:1305-1311
21. McInnis MG, Chakravarti A, Blaschak J, Petersen MB, Sharma V, Avramopoulos D, Blouin JL, Konig U, Brahe C, Matise TC, Warren AC, Talbot CC Jr, Broeckhoven C Van, Litt M, Antonarakis SE (1993) A linkage map of human chromosome 21: 43 PCR markers at average intervals of 2.5 cM. Genomics 16:562-571
22. Muenke M, Bone LJ, Mitchell HF, Hart I, Walton K, Hall-Johnson K. Ippel EF, Dietz-Band J, Kvaloy K, Fan C-M, Tessier-Lavigne M, Patterson D (1995) Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome. Am J Hum Genet 57:1747-1079
23. Nakai K, Kanehisa M (1992) A knowledge base for predicting protein localization sites in eukaryotic cells. Genomics 1:897-911
24. Nizetic D, Gellen L, Hamvas RM, Mott R, Grigoriev A, Vatcheva R, Zehetner G, Yaspo ML, Dutriaux A, Lopes C, Delabar JM, Broeckhoven C Van, Potier MC, Lehrach H (1994) An integrated YAC-overlap and cosmid-pocket map of the human chromosome 21. Hum Mol Genet 3:759-770
25. Patterson D, Rahmani Z, Donaldson D, Gardiner K, Jones C (1993) Physical mapping of chromosome 21. Prog Clin Biol Res 384:33-50
26. Pennacchio LA, Lehesjoki A-E, Stone NE, Willour VL, Virtaneva K, Miao J, D'Amato E, et al (1996) Mutations in the gene encoding Cystatin B in progressive myoclonus epilepsy (EPM1). Science 271:1731-1734
27. 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 17:1735-1742
28. Rotig A, Cormier V, Chatelain P, Francois R, Saudubray J-M, Rustin P, Munnich A (1993) Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300). J Clin Invest 91: 1095-1098
29. Scott HS, Blanch L, Guo XH, Freeman C, Orsborn A, Baker E, Sutherland GR, Morris CP, Hopwood JJ (1995) Cloning of the sulphamidase gene and identification of mutations in Sanfilippo A syndrome. Nat Genet 11:465-467
30. Sertié AL, Quimby M, Moreira ES, Murray J, Zatz M, Antonarakis SE, Passos-Bueno MR (1996) A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped on 21q22.3. Hum Mol Genet 5:843-847
31. Soares MB, de Bonaldo MF, Jelene P, Su L, Lawton L, Efstratiadis A (1994) Construction and characterization of a normalized cDNA library. Proc Natl Acad Sci USA 91:9228-9232
32. Soeda EH, Hou DX, Osoegawa K, Atsuchi Y, Yamagata T, Shimokawa T, Kishida H, Soeda E, Okano S, Chumakov I. Cohen D, Raff M, Gardiner K, Graw SL, Patterson D, De Jong P, Ashworth LK, Slezak T, Carrano AV (1995) Cosmid assembly and anchoring to human chromosome 21. Genomics 25:73-84
33. Stone NE, Fan JB, Willour N, Pennacchio LA, Warrington JA, Hu A, de la Chapelle A, Lehesjoki AE, Cox DR, Myers RM (1996) Construction of a 750-kb bacterial clone contig and restriction map in the region of human chromosome 21 containing the progressive myoclonus epilepsy gene. Genome Res 6:218-225
34. Straub RE, Lehner T, Luo Y, Loth JE, Shao W, Sharpe L, Alexander JR, Das K, Simon R, Fieve RR, Lerer B, Endicott J, Ott J, Gilliam CT, Baron M (1994) A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nat Genet 8:291-296
35. Tassone F, Burkin H, Weissman SM, Gardiner K (1995) cDNA selection from 10 Mb of chromosome 21 DNA: efficiency in transcriptional mapping and reflections of the genome organization. Hum Mol Genet 4:1509-1518
36. Thompson JD, Higgins DG, Gibson TJ (1994) CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequenceweighting, position specific gap penalties and weight matrix choice. Nucleic Acids Res 22:4673-4680
37. Ueshima R, Fujita N, Ishihama A (1992) Identification of Escherichia coli proteins cross-reacting with antibodies against region 2.2 peptide of RNA polymerase sigma subunit. Biochem Biophys Res Commun 184:634-639
38. Veske A, Oehlmann R, Younus F, Mohyuddin A, Müller-Myhsok B, Mehdi SQ, Gal A (1996) Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet 5:165-168
39. Yamakawa K, Mitchell S, Hubert R, Chen X-N, Colbern S, Huo Y-K, Gadomski C, Kim U-J, Korenberg JR (1995) Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum Mol Genet 4:709-716
40. Yaspo ML, Gellen L, Mott R, Korn B, Nizetic D, Poustka A, 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