Fourth International Workshop on Human Chromosome 15 Mapping, Genome Database, Baltimore, MD, October 28 1997

Cytogenetics and Cell Genetics

Volumn 84, Issue 1-2, 1999, Pages 12-21

  Morton, C C ^a   Christian, S L ^b   Donlon, T A ^b   Driscoll, D J ^b   Fink, J K ^b   Gabriel, J M ^b   Gotway, G ^b   Greally, J M ^b   Hitchins, M P ^b   Howard, H C ^b   Ji, Y ^b   Leonard, S ^b   Lerner, T ^b   Magenis, E ^b   Malcolm, S ^b   Ohta, T ^b   Rainier, S ^b   Rees, M ^b   Riley, B ^b   Robinson, W P ^b   Saitoh, S ^b   Schultz, R ^b   Sell, S ^b   Sharp, J D ^b   Talbot, C ^b   Trent, R ^b   Wevrick, R ^b   Nicholls, R D ^b   more..

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; CENTROMERE; CHROMOSOME 15; CHROMOSOME MAP; CONFERENCE PAPER; DNA METHYLATION; GENE DELETION; GENE DUPLICATION; GENE ISOLATION; GENE MAPPING; HUMAN; HUMAN CELL; NONHUMAN; PRIORITY JOURNAL; PSEUDOGENE; YEAST ARTIFICIAL CHROMOSOME; ANIMAL; COMPARATIVE STUDY; FEMALE; GENE EXPRESSION; GENETICS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; MALE; MOUSE; PRADER WILLI SYNDROME;

ANIMALIA;

ANGELMAN SYNDROME; ANIMALS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENOMIC IMPRINTING; HUMANS; MALE; MICE; PHYSICAL CHROMOSOME MAPPING; PRADER-WILLI SYNDROME;

EID: 0032616558     PISSN: 03010171     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (47)

1. Albrecht U, Sutcliffe JS, Cattenach BM, Beechy CV, Armstrong D, Eichele G, Beaudet AL: Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genet 17:75-78 (1997).
2. Amos-Landgraf JM, Ji Y, Wandstrat AE, Driscoll DJ, Schwartz S, Nicholls RD: Recombination between large, transcriptionally active repeated elements at the proximal and distal breakpoints in Prader-Willi and Angelman syndrome. Am J hum Genet 61:A3 (1997).
3. Buiting K, Greger V, Brownstein B, Schlessinger D, Knoll J, Lalande M, Zabel B, Horsthemke B: A variable copy number gene family in 15q11→q13 and 16p11.2. Cytogenet Cell Genet 58:1992 (1991).
4. Buiting K, Greger V, Brownstein BH, Mohr RM, Voiculescu I, Winterpacht A, Zabel B, Horsthemke B: A putative gene family in 15q11→q13 and 16p11.2: possible implications for Prader-Willi and Angelman syndromes. Proc natl Acad Sci, USA 89:5457-5461 (1992).
5. Casaubon LK, Melanson M, Lopes-Cendes I, Marineau C, Andermann E, Andermann F, Weissenbach J, Prevost C, Bouchard J-P, Mathieu J, Rouleau GA: The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J hum Genet 58:28-34 (1996).
6. Christian SL, Bhatt NK, Martin SA, Sutcliffe JS, Kubota T, Huang B, Mutirangura A, Chinault AC, Beaudet AL, Ledbetter DH: Integrated YAC contig map of the Prader-Willi/Angelman region on chromosome 15q11→q13 with average STS spacing of 35 kb. Genome Res 8:146-57 (1998).
7. Cohen D, Heng HHQ, Shi X-M, McIntosh EM, Tsui L-C, Pearlman RE: Assignment of the human dUTPase gene (DUT) to chromosome 15q15→q21.1 by fluorescence in situ hybridization. Genomics 40:213-215 (1997).
8. Collins C, Nehlin JO, Stubbs JD, Kowbel D, Kuo W-L, Parry G: Mapping of a newly discovered human gene homologous to the apoptosis associated-murine mammary protein, MFG-E8, to chromosome 15q25. Genomics 39:117-118 (1997).
9. Dyomin VG, Rao PH, Dalla-Favera R, Chaganti RSK: BCL8, a novel gene involved in translocations affecting band 15q11→q13 in diffuse large-cell lymphoma. Proc natl Acad Sci, USA 94:5728-5732 (1997).
10. Gabriel JM, Gray TA, Stubbs L, Saitoh S, Ohta T, Nicholls RD: Structure and function correlations at the imprinted mouse Snrpn locus. Mammal Genome 9:788-793 (1998a).
11. Gabriel JM, Higgins MJ, Gebuhr TC, Shows TB, Saitoh S, Nicholls RD: A model to study genomic imprinting of human genes. Proc natl Acad Sci, USA 95:14857-14862 (1998b).
12. Glenn CC, Saitoh S, Jong MTC, Filbrandt MM, Surti U, Driscoll DJ, Nicholls RD: Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am J hum Genet 58:335-346 (1996).
13. Ji Y, Walkowicz MJ, Buiting K, Johnson DK, Tarvin R, Rinchik EM, Horsthemke B, Stubbs L, Nicholls RD: The ancestral gene for transcribed low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking that is deficient in mice with neuromuscular and spermiogenic abnormalities. Hum Mol Genet (in press 1999).
14. Jong MTC, Gray TA, Ji Y, Glenn CC, Saitoh S, Driscoll DJ, Nicholls RD: A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region. Hum Mol Genet (in press 1999).
15. Kenny JJ, Knobloch TJ, Augustus M, Carter KC, Rosen CA, Lang JC: GRS, a novel member of the Bcl-2 gene family, is highly expressed in multiple cancer cell lines and in normal leukocytes. Oncogene 14:997-1001 (1997).
16. Kishino T, Lalande M, Wagstaff J: UBE3A/E6-AP mutations cause Angelman syndrome. Nature Genet 15:70-73 (1997).
17. Knoll JHM, Cheng S-D, Lalande M: Allele specificity of DNA replication timing in the Angelman/Prader-Willi syndrome imprinted chromosomal region. Nature Genet 6:41-46 (1994).
18. Koivunen P, Horelli-Kuitunen N, Helaakoski T, Karvonen P, Jaakkola M, Palotie A, Kivirikko KI: Structures of the human gene for the protein disulfide isomerase-related polypeptide ERp60 and a processed gene and assignment of these genes to 15q15 and 1q21. Genomics 42:397-404 (1997).
19. LaSalle JM, Lalande M: Homologous association of oppositely imprinted chromosomal domains. Science 272:725-728 (1996).
20. Lin EY, Kozak CA, Orlofsky A, Prystowsky MB: The bcl-2 family member, Bcl2a1, maps to mouse chromosome 9 and human chromosome 15. Mammal Genome 8:293-294 (1997).
21. MacDonald HR, Wevrick R: The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet 6:1873-1878 (1997).
22. Maruyama K, Usami M, Aizawa T, Yoshikawa K: A novel brain-specific mRNA encoding nuclear protein (necdin) expressed in neurally differential embryonal carcinoma cells. Biochem biophys Res Commun 178:291-296 (1991).
23. Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, Rommens JM, Beaudet AL: De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nature Genet 15:74-77 (1994).
24. McVean GT, Hurst LD, Moore T: Genomic evolution in mice and men: imprinted genes have little intronic content. Bioessays 18:773-775 (1996).
25. Meguro M, Mitsuya K, Sui H, Shigenami K, Kugoh H, Nakao M, Oshimura M: Evidence for uniparental, paternal expression of the human GABAA receptor subunit genes, using microcell-mediated chromosome transfer. Hum Mol Genet 6:2127-33 (1997).
26. Meyerhardt JA, Look AT, Bigner SH, Fearon ER: Identification and characterization of neogenin, a DCC-related gene. Oncogene 14:1129-1136 (1997).
27. x isozyme. Proc natl Acad Sci, USA 92:11766-11770 (1995).
28. Nagasawa A, Kubota R, Imamura Y, Nagamine K, Wang Y, Asakawa S, Kudoh J, Minoshima S, Mashima Y, Oguchi Y, Shimizu N: Cloning of the cDNA for a new member of the immunoglobulin superfamily (ISLR) containing leucine-rich repeat. Genomics 44:273-279 (1997).
29. Nakao M, Sutcliffe JS, Durtschi B, Mutirangura A, Ledbetter DH, Beaudet AL: Imprinting analysis of three genes in the Prader-Willi/Angelman region: SNRPN, E6-associated protein, and PAR-2 (D15S225E). Hum Mol Genet 3:309-315 (1994).
30. Nicholls RD, Saitoh S, Horsthemke B: Imprinting in Prader-Willi and Angelman syndromes. Trends Genet 9:194-200 (1998).
31. Riggins GJ, Thiagalingam S, Rozenblum E, Weinstein CL, Kern SE, Hamilton SR, Willson JKV, Markowitz SD, Kinzler KW, Vogelstein B: Mad-related genes in the human. Nature Genet 13:347-349 (1996).
32. Robinson WP, Horsthemke B, Leonard S, Malcolm S, Morton C, Nicholls RD, Ritchie RJ, Rogan P, Schultz R, Schwartz S, Sharp J, Trent R, Wevrick R, Williamson M, Knoll JHM: Report of the third international workshop on human chromosome 15 mapping. Cytogenet Cell Genet 76:1-13 (1997).
33. Rougeulle C, Glatt H, Lalande M: The Angelman syndrome candidate gene, UBE3A/E6-AP, is imprinted in the brain. Nature Genet 17:14-15 (1997).
34. Saadallah N, Hulten M: Chiasma distribution, genetic lengths, and recombination fractions: a comparison between chromosomes 15 and 16. J med Genet 20:290-9 (1983).
35. Schiebel K, Mertz A, Winkelmann M, Glaser B, Schempp W, Rappold G: FISH localization of the human Y-homolog of protein kinase PRKX (PRKY) to Yp11.2 and two pseudogenes to 15q26 and Xq12→q13. Cytogenet Cell Genet 76:49-52 (1997).
36. Sharp JD, Wheeler RB, Lake BD, Savukoski M, Järvelä IE, Peltonen L, Gardiner RM, Williams RE: Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21→23. Hum Mol Genet 6:591-595 (1997).
37. Shemer R, Birger Y, Riggs AD, Razin A: Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc natl Acad Sci, USA 94:10267-10272 (1997).
38. Simon DB, Karet FE, Hamdan JM, Di Pietro A, Sanjad SA, Lifton RP: Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nature Genet 13:183-188 (1996).
39. Sinnett D, Woolf E, Xie W, Glatt K, Kirkness EF, Nielsen TO, Zannis-Hadjopoulos M, Price GB, Lalande M: Identification of a putative DNA replication origin in the gamma-aminobutyric acid receptor subunit beta3 and alpha5 gene cluster on human chromosome 15q11→q13, a region associated with parental imprinting and allele-specific replication timing. Gene 173:171-177 (1996).
40. Trent RJ, Sheffield LJ, Deng ZM, Kim WS, Nassif NT, Ryce C, Woods CG, Michaelis RC, Tarleton J, Smith A: The elusive Angelman syndrome critical region. J med Genet 34:714-8 (1997).
41. Uetsuki T, Takagi K, Sugiura H, Yoshikawa K: Structure and expression of the mouse necdin gene. Identification of a postmitotic neuron-restrictive core promoter. J biol Chem 271:918-924 (1996).
42. Ueyama H, Inazawa J, Nishino H, Ohkubo I, Miwa T: FISH localization of human cytoplasmic actin genes ACTB to 7p22 and ACTG1 to 17q25 and characterization of related pseudogenes. Cytogenet Cell Genet 74:221-224 (1996).
43. Vielmetter J, Chen X-N, Miskevich F, Lane RP, Yamakawa K, Korenberg JR, Dreyer WJ: Molecular characterization of human neogenin, a DCC-related protein, and the mapping of its gene (NEO1) to chromosomal position 15q22.3→q23. Genomics 41:414-421 (1997).
44. Vu TH, Hoffman AR: Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Nature Genet 17:12-13 (1997).
45. Yamazaki K, Mizu Y, Tanaka I: Radiation hybrid mapping of human ADAM 10 gene to chromosome 15. Genomics 45:457-459 (1997).
46. Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, Francke U, Jenkins NA, Copeland NG, Brannan CI: A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genet 19:25-31 (1998).
47. Zeschnigk M, Schmitz B, Dittrich B, Buiting K, Horsthemke B, Doerfler W: Imprinted segments in the human genome: different DNA methylation patterns in the Prader-Willi/Angelman syndrome region as determined by the genomic sequencing method. Hum Mol Genet 6:387-395 (1997).