Paternal deletion from Snrpn to Ube3a in the mouse causes hypotonia, growth retardation and partial lethality and provides evidence for a gene contributing to Prader-Willi syndrome

Human Molecular Genetics

Volumn 8, Issue 8, 1999, Pages 1357-1364

  Tsai, Ting Fen ^a   Jiang, Yong Hui ^a   Bressler, Jan ^a   Armstrong, Dawna ^a   Beaudet, Arthur L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CHROMOSOME 15Q; CHROMOSOME DELETION; CONTROLLED STUDY; DNA METHYLATION; EXON; GENE DELETION; GENE FUNCTION; GENOTYPE; GROWTH RETARDATION; INHERITANCE; LETHALITY; MOUSE; MUSCLE HYPOTONIA; NONHUMAN; OPEN READING FRAME; PHENOTYPE; POSITION EFFECT; PRADER WILLI SYNDROME; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; STRUCTURAL GENE;

ABNORMALITIES, MULTIPLE; ANIMALS; AUTOANTIGENS; BRAIN; CHROMOSOME DELETION; FEMALE; GENE EXPRESSION; GENOMIC IMPRINTING; HUMANS; LIGASES; MALE; MICE; MICE, INBRED STRAINS; MUSCLE HYPOTONIA; MUTAGENESIS, SITE-DIRECTED; OPEN READING FRAMES; PEDIGREE; PHENOTYPE; PRADER-WILLI SYNDROME; RIBONUCLEOPROTEINS, SMALL NUCLEAR; RNA; UBIQUITIN-PROTEIN LIGASES;

ANIMALIA; RODENTIA;

EID: 0032837539     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.8.1357     Document Type: Article

References (33)

1. Jiang, Y., Tsai, T.-F., Bressler, J. and Beaudet, A.L. (1998) Imprinting in Angelman and Prader-Willi syndromes. Curr. Opin. Genet. Dev., 8, 334-342.
2. Lalande, M. (1996) Parental imprinting and human disease. Annu. Rev. Genet., 30, 173-195.
3. Nicholls, R.D., Saitoh, S. and Horsthemke, B. (1998) Imprinting in Prader-Willi and Angelman syndromes. Trends Genet., 14, 194-200.
4. Malzac, P., Webber, H., Moncla, A., Graham, J.M., Kukolich, M., Williams, C., Pagon, R.A., Ramsdell, L.A., Kishino, T. and Wagstaff, J. (1998) Mutation analysis of UBE3A in Angelman syndrome patients. Am. J. Hum. Genet., 62, 1353-1360.
5. Fang, P., Lev-Lehman, E., Tsai, T.-F., Matsuura, T., Benton, C.S., Sutcliffe, J.S., Christian, S.L., Kubota, T., Halley, D.J., Meijers-Heijboer, H., Langlois, S., Graham, J.M., Beuten, J., Willems, P., Ledbelter, D.H. and Beaudet, A.L. (1999) The spectrum of mutations in UBE3A causing Angelman syndrome. Hum. Mol. Genet., 8, 129-135.
6. Cassidy, S.B. (1997) Prader-Willi syndrome. J. Med. Genet., 34, 917-923.
7. Saitoh, S., Buiting, K., Cassidy, S.B., Conroy. J.M., Driscoll, D.J., Gabriel, J.M., Gillessen-Kaesbach, G., Glenn, C.C., Greenswag, L.R., Horsthemke, B., Kondo, I., Kuwajima, K., Nikawa, N., Rogan, P.K., Schwartz, S., Seip, J., Williams, C.A. and Nicholls, R.D. (1997) Clinical spectrum and molecular diagnosis of Angelman and Prader-Willi syndrome patients with an imprinting mutation. Am. J. Med. Genet., 68, 195-206.
8. Leff, S.E., Brannan, C.I., Reed, M.L., Özçelik, T., Francke, U., Copeland, N.G. and Jenkins, N.A. (1992) Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with the human Prader-Willi syndrome region. Nature Genet., 2, 259-264.
9. Özçelik, T., Leff, S., Robinson, W., Donlon, T., Lalande, M., Sanjines, E., Schinzel, A. and Francke, U. (1992) Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nature Genet., 2, 265-269.
10. Cattanach, B.M., Barr, J.A., Evans, E.P., Burtenshaw, M., Beechey, C.V., Leff, S.E., Brannan, C.I., Copeland, N.G., Jenkins, N.A. and Jones, J. (1992) A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nature Genet., 2, 270-274.
11. Yang, T., Adamson, T.E., Resnick, J.L., Leff, S., Wevrick, R., Francke, U., Jenkins, N.A., Copeland, N.G. and Brannan, C.I. (1998) A mouse model for Prader-Willi syndrome imprinting-centre mutations. Nature Genet., 19, 25-31.
12. McAllister, G., Amara, S.G. and Lemer, M.R. (1988) Tissue-specific expression and cDNA cloning of small nuclear ribonucleoprotein-associated polypeptide N. Proc. Natl Acad. Sci. USA, 85, 5296-5300.
13. Schmauss, C. and Lerner, M.R. (1990) The closely related small nuclear ribonucleoprotein polypeptides N and B/B′ are distinguishable by antibodies as well as by differences in their mRNAs and gene structures. J. Biol. Chem., 265, 10733-10739.
14. Sun, Y., Nicholls, R.D., Butler, M.G., Saitoh, S., Hainline, B.E. and Palmer, C.G. (1996) Breakage in the SNRPN locus in a balanced 46, XY, t(15;19) Prader-Willi syndrome patient. Hum. Mol. Genet., 5, 517-524.
15. Kuslich, C.D., Kobori, J.A., Mohapatra, G., Gregorio-King, C. and Donlon, T.A. (1999) Prader-Willi syndrome is caused by disruption of the SNRPN gene. Am. J. Hum. Genet., 64, 70-76.
16. Schulze, A., Hansen, C., Skakkebaek, N.E., Brondum-Nielsen, K., Ledbetter, D.H. and Tommerup, N. (1996) Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nature Genet., 12, 452-454.
17. Conroy, J.M., Grebe, T.A., Becker, L.A., Tsuchiya, K., Nicholls, R.D., Buiting, K., Horsthemke, B., Cassidy, S.B. and Schwartz, S. (1997) Balanced translocation 46, XY, t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am. J. Hum. Genet., 61, 388-394.
18. Gabriel, J.M., Gray, T.A., Stubbs, L., Saitoh, S., Ohta, T. and Nicholls, R.D. (1998) Structure and function correlations at the imprinted mouse Snrpn locus. Mamm. Genome, 9, 788-793.
19. Glenn, C.C., Saitoh, S., Jong, M.T.C., Filbrandt, M.M., Surti, U., Driscoll, D.J. and Nicholls, R.D. (1996) Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet., 58, 335-346.
20. Shemer, R., Birger, Y., Riggs, A.D. and 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.
21. Sutcliffe, J.S., Nakao, M., Christian, S., Orstavik, K.H., Tommerup, N., Ledbetter, D.H. and Beaudet, A.L. (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet., 8, 52-58.
22. Zeschnigk, M., Schmitz, B., Dittrich, B., Buiting, K., Horsthemke, B. and Doerfler, W. (1997) 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.
23. Ramirez-Solis, R., Liu, P. and Bradley, A. (1995) Chromosome engineering in mice. Nature, 378, 720-724.
24. Jiang, Y.-H., Armstrong, D., Albrecht, U., Atkins, C.M., Noebels, J.L., Eichele, G., Sweatt, J.D. and Beaudet, A.L. (1998) Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron, 21, 799-811.
25. Watrin, F., Roeckel, N., Lacroix, L., Mignon, C., Mattei, M.G., Disteche, C. and Muscatelli, F. (1997) The mouse Necdin gene is expressed from the paternal allele only and lies in the 7C region of the mouse chromosome 7, a region of conserved synteny to the human Prader-Willi syndrome region. Eur. J. Hum. Genet., 5, 324-332.
26. Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G. and Beaudet, A.L. (1997) Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Nature Genet., 17, 75-78.
27. Johnson, D.K., Stubbs, L.J., Culiat, C.T., Montgomery, C.S., Russell, L.B. and Rinchik, E.M. (1995) Molecular analysis of 36 mutations at the mouse pink-eyed dilution (p) locus. Genetics, 141, 1563-1571.
28. McMahon, A.P. and Bradley, A. (1990) The Wnt-1 (int-1) proto-oncogene is required for development of a large region of the mouse brain. Cell, 62, 1073-1085.
29. Ramirez-Solis, R., Davis, A.C. and Bradley, A. (1993) Gene targeting in embryonic stem cells. Methods Enzymol., 225, 855.
30. Ramirez-Solis, R., Rivera-Perez, J., Wallace, J.D., Wims, M., Zheng, H. and Bradley, A. (1992) Genomic DNA microextraction: a method to screen numerous samples. Anal. Biochem., 201, 331-335.
31. Sambrook, J., Fritsch, E.F. and Maniatis, T. (1989) Molecular Cloning: A Laboratory Manual, 2nd Edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York, NY.
32. Wevrick, R. and Francke, U. (1997) An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene. Hum. Mol. Genet., 6, 325-332.
33. Wagstaff, J., Chaillet, J.R. and Lalande, M. (1991) The GABAA receptor beta 3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics, 11, 1071-1078.