Genetic mapping of putative Chrna7 and Luzp2 neuronal transcriptional enhancers due to impact of a transgene-insertion and 6.8 Mb deletion in a mouse model of Prader-Willi and Angelman syndromes

BMC Genomics

Volumn 6, Issue , 2005, Pages

  Stefan, Mihaela ^a,e   Claiborn, Kathryn C ^a   Stasiek, Edyta ^b   Chai, Jing Hua ^a   Ohta, Tohru ^a,d   Longnecker, Richard ^c   Greally, John M ^b   Nicholls, Robert D ^a,e  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^c NORTHWESTERN UNIVERSITY   (United States)

^d HEALTH SCIENCES UNIVERSITY OF HOKKAIDO   (Japan)

^e CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; IMMUNOGLOBULIN; MESSENGER RNA; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR CHRNA7; TRANSCRIPTION FACTOR LUZP2; UNCLASSIFIED DRUG; BUNGAROTOXIN RECEPTOR; DNA BINDING PROTEIN; LUZP2 PROTEIN, MOUSE; NICOTINIC RECEPTOR;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; B LYMPHOCYTE; BRAIN NERVE CELL; CENTROMERE; CHROMOSOME 7; CONTROLLED STUDY; CYTOPATHOLOGY; DATA ANALYSIS; DNA FLANKING REGION; ENHANCER REGION; EXTRACHROMOSOMAL INHERITANCE; GENE DELETION; GENE EXPRESSION; GENE FUSION; GENE INSERTION; GENE ISOLATION; GENE LOCUS; GENE MAPPING; GENE REARRANGEMENT; GENE SEQUENCE; GENE SILENCING; GENETIC CODE; GENETIC CONSERVATION; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; INHERITANCE; INTRON; MOLECULAR GENETICS; MOUSE; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PATERNITY; PRADER WILLI SYNDROME; PROMOTER REGION; SCHIZOPHRENIA; SYNTENY; TELOMERE; TRANSCRIPTION REGULATION; TRANSGENE; UPREGULATION; ANIMAL; BIOLOGICAL MODEL; BRAIN; CHROMOSOME MAP; DISEASE MODEL; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; METHODOLOGY; NERVE CELL; TISSUE DISTRIBUTION; ULTRASTRUCTURE;

ANIMALIA;

ALLELES; ANGELMAN SYNDROME; ANIMALS; BRAIN; CENTROMERE; CHROMOSOME MAPPING; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; ENHANCER ELEMENTS, GENETIC; GENE DELETION; GENE EXPRESSION REGULATION; GENE SILENCING; GENOMIC IMPRINTING; IMMUNOGLOBULINS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTRONS; MICE; MODELS, GENETIC; NEURONS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHYSICAL CHROMOSOME MAPPING; PRADER-WILLI SYNDROME; PROMOTER REGIONS, GENETIC; RECEPTORS, NICOTINIC; SCHIZOPHRENIA; TELOMERE; TISSUE DISTRIBUTION; TRANSCRIPTION, GENETIC; TRANSGENES; UP-REGULATION;

EID: 27944457262     PISSN: 14712164     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-6-157     Document Type: Article

References (54)

1. Nicholls RD, Knepper JL: Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2001, 2:153-175.
2. Cassidy SB, Schwartz S: Prader-Willi and Angelman syndromes. Disorders of genomic imprinting. Medicine (Baltimore) 1998, 77: 140-151.
3. Pärtsch CJ, Lammer C, Gillessen-Kaesbach G, Pankau R: Adult patients with Prader-Willi syndrome: clinical characteristics, life circumstances and growth hormone secretion. Growth Horm IGF Res 2000, 10: S81-S85.
4. Amos-Landgraf JM, Ji Y, Gottlieb W, Depinet T, Wandstrat AE, Cassidy SB, Driscoll DJ, Rogan PK, Schwartz S, Nicholls RD: Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints. Am J Hum Genet 1999, 65: 370-386.
5. Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland NG, Jenkins NA, Jones J: A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nat Genet 1992, 2: 270-274.
6. 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. Nat Genet 1998, 19: 25-31.
7. Gabriel JM, Merchant M, Ohta T, Ji Y, Caldwell RG, Ramsey MJ, Tucker JD, Longnecker R, Nicholls RD: A transgene insertion creating a heritable chromosome deletion mouse model of Prader-Willi and Angelman syndromes. Proc Natl Acad Sci USA 1999, 96: 9258-9263.
8. Nicholls RD, Stefan M, Ji H, Qi Y, Frayo RS, Wharton RH, Dhar MS, Cummings DE, Friedman MI, Ahima RS: Mouse models for Prader-Willi and Angelman syndromes offer insights into novel obesity mechanisms. In: Prog Obesity Res. Edited by Medeiros-Neto G, Halpern A, Bouchard C. 2003: 313-319.
9. Stefan M, Ji H, Simmons RA, Cummings DE, Ahima RS, Friedman MI, Nicholls RD: Hormonal and metabolic defects in a Prader-Willi syndrome mouse model with neonatal failure to thrive. Endocrinology 2005, 146: 4377-4385.
10. Cattanach BM, Barr JA, Beechey CV, Martin J, Noebels J, Jones J: A candidate model for Angelman syndrome in the mouse. Mamm Genome 1997, 8: 472-478.
11. Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, Sweatt JD, Beaudet AL: Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 1998, 21: 799-811.
12. Miura K, Kishino T, Li E, Webber H, Dikkes P, Holmes GL, Wagstaff J: Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice. Neurobiol Dis 2002, 9: 149-159.
13. Chai JH, Locke DP, Ohta T, Greally JM, Nicholls RD: Retrotransposed genes such as Frat3 in the mouse Chromosome 7C Prader-Willi syndrome region acquire the imprinted status of their insertion site. Mamm Genome 2001, 12: 813-821.
14. Chai JH, Locke DP, Greally JM, Knoll JH, Ohta T, Dunai J, Yavor A, Eichler EE, Nicholls RD: Identification of four highly conserved genes between breakpoint hotspots BP1 and BP2 of the Prader-Willi/Angelman syndromes deletion region that have undergone evolutionary transposition mediated by flanking duplicons. Am J Hum Genet 2003, 73: 898-925.
15. Stefan M, Portis T, Longnecker R, Nicholls RD. A nonimprinted Prader-Willi Syndrome (PWS)-region gene regulates a different chromosomal domain in trans but the imprinted PWS loci do not alter genome-wide mRNA levels. Genomics 2005, 85: 630-640.
16. Caldwell RG, Wilson JB, Anderson SJ, Longnecker R: Epstein-Barr virus LMP2A drives B cell development and survival in the absence of normal B cell receptor signals. Immunity 1998, 9: 405-411.
17. Henegariu O, Heerema NA, Lowe Wright L, Bray-Ward P, Ward DC, Vance GH: Improvements in cytogenetic slide preparation: controlled chromosome spreading, chemical aging and gradual denaturing. Cytometry 2001, 43: 101-109.
18. Greally JM, Gray TA, Gabriel JM, Song L, Zemel S, Nicholls RD: Conserved characteristics of heterochromatin-forming DNA at the 15q11-q13 imprinting center. Proc Nat Acad Sci USA 1999, 96: 14430-14435.
19. Mendell JT, Sharifi NA, Meyers JL, Martinez-Murillo F, Dietz HC: Nonsense surveillance regulates expression of diverse classes of mammalian transcripts and mutes genomic noise. Nat Genet 2004, 36: 1073-1078.
20. Angata T, Hingorani R, Varki NM, Varki A: Cloning and characterization of a novel mouse Siglec, mSiglec-F: differential evolution of the mouse and human (CD33) Siglec-3-related gene clusters. J Biol Chem 2001, 276: 45128-45136.
21. Angata T, Margulies EH, Green ED, Varki A: Large-scale sequencing of the CD33-related Siglec gene cluster in five mammalian species reveals rapid evolution by multiple mechanisms. Proc Natl Acad Sci USA 2004, 101: 13251-13256.
22. Crocker PR: Siglecs: sialic-acid-binding immunoglobulin-like lectins in cell-cell interactions and signalling. Curr Opin Struct Biol 2002, 12: 609-615.
23. Butler MG, Bittel DC, Kibiryeva N, Talebizadeh Z, Thompson T: Behavioral differences among subjects with Prader-Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics 2004, 113: 565-5673.
24. Varela MC, Kok F, Otto PA, Koiffmann CP: Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects. Eur J Hum Genet 2004, 12: 987-992.
25. Wu M, Michaud EJ, Johnson DK: Cloning, functional study and comparative mapping of Luzp2 to mouse chromosome 7 and human chromosome 11p13-11p14. Mamm Genome 2003, 14: 323-334.
26. Orr-Urtreger A, Goldner FM, Saeki M, Lorenzo I, Goldberg L, De Biasi M, Dani JA, Patrick JW, Beaudet AL: Mice deficient in the alpha7 neuronal nicotinic acetylcholine receptor lack alpha-bungarotoxin binding sites and hippocampal fast nicotinic currents. J Neurosci 1997, 17: 9165-9171.
27. Arredondo J, Nguyen VT, Chernyavsky AI, Bercovich D, Orr-Urtreger A, Kummer W, Lips K, Vetter DE, Grando SA: Central role of alpha7 nicotinic receptor in differentiation of the stratified squamous epithelium. Cell Biol 2002, 159: 325-336.
28. Morley BJ, Rodriguez-Sierra JF: A phenotype for the alpha 7 nicotinic acetylcholine receptor null mutant. Brain Res 2004, 1023: 41-47.
29. Bray C, Son JH, Kumar P, Meizel S: Mice deficient in CHRNA7, a subunit of the nicotinic acetylcholine receptor, produce sperm with impaired motility. Biol Reprod 2005, 73: 807-814.
30. Stankiewicz P, Park SS, Inoue K, Lupski JR: The evolutionary chromosome translocation 4;19 in Gorilla gorilla is associated with microduplication of the chromosome fragment syntenic to sequences surrounding the human proximal CMT1A-REP. Genome Res 2001, 11: 1205-1210.
31. Bailey JA, Baertsch R, Kent WJ, Haussler D, Eichler EE: Hotspots of mammalian chromosomal evolution. Genome Biol 2004, 5: R23.
32. Mortlock DP, Portnoy ME, Chandler RL, Green ED: Comparative sequence analysis of the Gdf6 locus reveals a duplicon-mediated chromosomal rearrangement in rodents and rapidly diverging coding and regulatory sequences. Genomics 2004, 84: 814-823.
33. MacDonald BT, Adamska M, Meisler MH: Hypomorphic expression of Dkk1 in the doubleridge mouse: dose dependence and compensatory interactions with Lrp6. Development 2004, 131: 2543-2552.
34. Cunningham D, Xiao Q, Chatterjee A, Sulik K, Juriloff D, Elder F, Harrison W, Schuster G, Overbeek PA, Herman GE: Exma: an X-linked insertional mutation that disrupts forebrain and eye development. Mamm Genome 2002, 13: 179-185.
35. Smiraglia DJ, Wu C, Ellsworth MK, Ratty AK, Chapman VM, Gross KW: Genetic characterization of the chromosomal rearrangements that accompany the transgene insertion in the chakragati mouse mutant. Genomics 1997, 45: 572-579.
36. Kai M, Irie M, Okutsu T, Inoue K, Ogonuki N, Miki H, Yokoyama M, Migishima R, Muguruma, K, Fujimura H, Kohda T, Ogura A, Kaneko-Ishino T, Ishino F: The novel dominant mutation Dspd leads to a severe spermiogenesis defect in mice. Biol Reprod 2004, 70: 1213-1221.
37. Morgan D, Turnpenny L, Goodship J, Dai W, Majumder K, Matthews L, Gardner A, Schuster G, Vien L, Harrison W, Elder FF, Penman-Splitt M, Overbeek P, Strachan T: Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. Nat Genet 1998, 20: 149-156 (Erratum in: 20, 312).
38. Qin Y, Kong LK, Poirier C, Truong C, Overbeek PA, Bishop CE: Long-range activation of Sox9 in Odd Sex (Ods) mice. Hum Mol Genet 2004, 13: 1213-1218.
39. Bejerano G, Pheasant M, Makunin I, Stephen S, Kent WJ, Mattick JS, Haussler D: Ultraconserved elements in the human genome. Science 2004, 304: 1321-1325.
40. Dermitzakis ET, Reymond A, Antonarakis SE: Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet 2005, 6: 151-157.
41. Loots GG, Locksley RM, Blankespoor CM, Wang ZE, Miller W, Rubin EM, Frazer KA: Identification of a coordinate regulator of interleukins 4, 13, and 5 by cross-species sequence comparisons. Science 2000, 288: 136-140.
42. Nobrega MA, Ovcharenko I, Afzal V, Rubin EM: Scanning human gene deserts for long-range enhancers. Science 2003, 302: 413.
43. Nobrega MA, Pennacchio LA: Comparative genomic analysis as a tool for biological discovery. J Physiol 2004, 554: 31-39.
44. Gottgens B, Barton LM, Gilbert JG, Bench AJ, Sanchez MJ, Bahn S, Mistry S, Grafham D, McMurray A, Vaudin, M., Amaya E, Bentley DR, Green AR, Sinclair AM: Analysis of vertebrate SCL loci identifies conserved enhancers. Nat Biotechnol 2000, 18: 181-186.
45. Henikoff S: Conspiracy of silence among repeated transgenes. Bioessays 1998, 20: 532-535.
46. Freedman R, Coon H, Myles Worsley M, OrrUrtreger A, Olincy A, Davis A, Polymeropoulos M, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimherr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, Byerley W: Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA 1997, 94: 587-592.
47. Freedman R, Leonard S: Genetic linkage to schizophrenia at chromosome 15q14. Am J Med Genet 2001, 105: 655-657.
48. Perl O, Ilani T, Strous RD, Lapidus R, Fuchs S: The alpha7 nicotinic acetylcholine receptor in schizophrenia: decreased mRNA levels in peripheral blood lymphocytes. FASEB J 2003, 17: 1948-1950.
49. Leonard S, Gault J, Hopkins J, Logel J, Vianzon R, Short M, Drebing C, Berger R, Venn D, Sirota P, Zerbe G, Olincy A, Ross RG, Adler LE, Freedman R: Association of promoter variants in the alpha7 nicotinic acetylcholine receptor subunit gene with an inhibitory deficit found in schizophrenia. Arch Gen Psychiatry 2002, 59: 1085-1096.
50. Gault J, Hopkins J, Berger R, Drebing C, Logel J, Walton C, Short M, Vianzon R, Olincy A, Ross RG, Adler LE, Freedman R, Leonard S: Comparison of polymorphisms in the alpha7 nicotinic receptor gene and its partial duplication in schizophrenic and control subjects. Am J Med Genet B Neuropsychiatr Genet 2003, 123: 39-49.
51. Houy E, Raux G, Thibaut F, Belmont A, Demily C, Allio, G, Haouzir S, Fouldrin G, Petit M, Frebourg T, Campion D: The promoter-194 C polymorphism of the nicotinic alpha 7 receptor gene has a protective effect against the P50 sensory gating deficit. Mol Psychiatry 2004, 9: 320-322.
52. Website title [http://www.ensembl.org/Mus_musculus/]
53. Website title [http://www.ncbi.nlm.nih.gov/BLAST/]
54. Website title [http://www.repeatmasker.org/]