Analysis of murine Snrpn and human SBRPN gene imprinting in transgenic mice

Mammalian Genome

Volumn 10, Issue 6, 1999, Pages 549-555

  Blaydes, Susan M ^a   Elmore, Michael ^a   Yang, Tao ^a,b   Brannan, Camilynn I ^a  

^a UNIVERSITY OF FLORIDA   (United States)

^b UNIVERSITY OF FLORIDA HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ALLELE; ARTICLE; DNA FLANKING REGION; GENE LOCUS; GENOME IMPRINTING; HUMAN; INHERITANCE; METHYLATION; MOLECULAR CLONING; NONHUMAN; NUCLEOTIDE SEQUENCE; SEQUENCE ANALYSIS; TRANSGENIC MOUSE;

ANIMALS; AUTOANTIGENS; BASE SEQUENCE; DEOXYRIBONUCLEASE HINDIII; DNA METHYLATION; FEMALE; GENE EXPRESSION REGULATION; GENOMIC IMPRINTING; HUMANS; MALE; MAMMALS; MICE; MICE, INBRED STRAINS; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; POLYMORPHISM, GENETIC; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RESTRICTION MAPPING; RIBONUCLEOPROTEINS, SMALL NUCLEAR; SEQUENCE ANALYSIS, DNA;

MURINAE; MUS MUSCULUS; RODENTIA;

EID: 0032811481     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359901042     Document Type: Article

References (30)

1. Ainscough JF-X, Koide T, Tada M, Barton S, Surani A (1997) Imprinting of Igf2 and HI9 from a 130-kb YAC transgene. Development 124, 3621-3632
2. Allen ND, Norris ML, Surani MA (1990) Epigenetic control of transgene expression and imprinting by genotype-specific modifiers. Cell 61, 853-861
3. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, et al. (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9, 395-400
4. Buiting K, Dittrich B, Gross S, Lich C, Farber C, et al. (1998) Sporadic imprinting defects in Prader-Willi syndrome and Angelman syndrome: implications for imprint-switch models, genetic counseling, and prenatal diagnosis. Am J Hum Genet 67, 170-180
5. Church GM, Gilbert W (1985) The genomic sequencing technique. Prog Clin Biol Res 177, 17-21
6. Elson DA, Bartolomei MS (1997) A 5′ differentially methylated sequence and the 3′-flanking region are necessary for HI9 transgene imprinting. Mol Cell Biol 17, 309-317
7. Engler P, Haasch D, Pinkert CA, Doglio L, Glymour M, et al. (1991) A strain-specific modifier on mouse chromosome 4 controls the methylation of independent transgene loci. Cell 65, 939-947
8. Gabriel M, Gray TA, Stubbs L, Saitoh S, Ohta T, et al. (1998) Structure and function correlations at the imprinted mouse Snrpn locus. Mamm Genome 9, 788-793
9. Glenn CC, Porter KA, Jong MT, Nicholls RD, Driscoll DJ (1993) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2, 2001-2005
10. Glenn CC, Saitoh S, Jong MTC, Filbrandt MM, Surti U, et al. (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am J Hum Genet 58, 335-346
11. Hogan B, Beddington R, Constantini F, Lacy E (1994) Manipulating the mouse embryo. A laboratory manual, 2nd ed. (Cold Spring Harbor, N.Y.: Cold Spring Harbor Laboratory Press)
12. Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, et al. (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91, 398-402
13. Huq AH, Sutcliffe JS, Nakao M, Shen Y, Gibbs RA, et al. (1997) Sequencing and functional analysis of the SNRPN promotor: in vitro methylation abolishes promoter activity. Genome Res 7, 642-648
14. Leff SE, Brannan CI, Reed ML, Ozcelik T, Francke U, et al. (1992) Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nat Genet 2, 259-264
15. MacDonald HR, Wevrick R (1997) The necdin gene is deleted in Prader-Willi syndrome and is imprinted in human and mouse. Hum Mol Genet 6, 1873-1878
16. Mascari MJ, Gottlieh W, Rogan PK, Butler MG, Waller DA, et al. (1992) The frequency of uniparental disomy in Prader-Willi syndrome. Implications for molecular diagnosis. N Engl J Med 326, 1599-1607
17. Nicholls RD, Knoll JH, Butler MG, Karam S, Lalande M (1989a). Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342, 281-285
18. Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, et al. (1989b) Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 33, 66-77
19. Ozcelik T, Leff S, Robinson W, Donlon T, Lalande M, et al. (1992) Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet 2, 265-269
20. Pfeifer K, Leighton PA, Tilghman SM (1996) The structural HI9 gene is required for transgene imprinting. Proc Natl Acad Sci USA 93, 13876-13883
21. Reed ML, Leff SE (1994) Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nat Genet 6, 163-167
22. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, et al. (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54, 741-747
23. Robinson WP, Bottani A, Xie YG, Balakrishman J, Binkert F, et al. (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49, 1219-1234
24. Saitoh S, Buiting K, Rogan PK, Buxton JL, Driscoll DJ, et al. (1996) Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. Proc Natl Acad Sci USA 93, 7811-7815
25. Shemer R, Birger Y, Riggs AD, Razin A (1997) Structure of the imprinted mouse Snrpn gene and establishment of its parental-specific methylation pattern. Proc Natl Acad Sci USA 94, 10267-10272
26. Stoger R, Kubicka P, Liu CG, Kafri T, Razin A, et al. (1993) Maternal-specific methylation of the imprinted mouse Igf2r locus identifies the expressed locus as carrying the imprinting signal. Cell 73, 61-71
27. Sutcliffe JS, Nakao M, Christian S, Orstavik KH, Tommerup N, et al. (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nat Genet 8, 52-58
28. Tremblay KD, Saam JR, Ingram RS, Tilghman SM, Bartolomei MS (1995) A paternal-specific methylation imprint marks the alleles of the mouse HI9 gene. Nat Genet 9, 407-413
29. Wevrick R, Kerns JA, Francke U (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 3, 1877-1882
30. Yang T, Adamson TE, Resnick JL, Leff S, Wevrick R, et al. (1998) A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nat Genet 19, 25-31