Transchromosomal mouse embryonic stem cell lines and chimeric mice that contain freely segregating segments of human chromosome 21

Human Molecular Genetics

Volumn 8, Issue 5, 1999, Pages 923-933

  Hernandez, Diana ^a   Mee, P Joseph ^b   Martin, Joanne E ^c   Tybulewicz, Victor L J ^b   Fisher, Elizabeth M C ^a  

^a IMPERIAL COLLEGE SCHOOL OF MEDICINE   (United Kingdom)

^b NATIONAL INSTITUTE FOR MEDICAL RESEARCH   (United Kingdom)

^c ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL EXPERIMENT; ARTICLE; CELL LINE; CHIMERA; CHROMOSOME 21; CHROMOSOME ABERRATION; CONTROLLED STUDY; DOWN SYNDROME; GENE DOSAGE; MALE; MENTAL DEFICIENCY; MOLECULAR GENETICS; MORBIDITY; MORTALITY; MOUSE; NONHUMAN; PRIORITY JOURNAL; STEM CELL; SUPERNUMERARY CHROMOSOME; TRANSGENIC MOUSE; TRISOMY 21;

EID: 0032925810     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/8.5.923     Document Type: Article

References (49)

1. Gelehrter, T.D. and Collins, F.S. (1990) Principles of Medical Genetics. Williams & Wilkins, Baltimore.
2. Hernandez, D. and Fisher, E.M.C. (1996) Down syndrome genetics: unravelling a multifactorial disorder. Hum. Mol. Genet., 5, 1411-1416.
3. Shen, J.J., Williams, B.J., Zipursky, A., Doyle, J., Sherman, S.L., Jacobs, P.A., Shugar, A.L., Soukup, S.W. and Hassold, T.J. (1995) Cytogenetic and molecular studies of Down syndrome individuals with leukemia. Am. J. Hum. Genet., 56, 915-925.
4. Smith, G.E. and Berg, J.M. (1976) Down's Anomaly. Churchill Livingstone, Edinburgh.
5. Korenberg, J.R. (1995) Mental modelling. Nature Genet., 11, 109-111.
6. Delabar, J.M., Theophile, D., Rahmani, Z., Chettouh, Z., Blouin, J.L., Prieur, M., Noel, B. and Sinet, P.M. (1993) Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur. J. Hum. Genet., 1, 114-124.
7. Antonarakis, S.E. (1998) 10 years of genomics, chromosome 21, and Down syndrome. Genomics, 51, 1-16.
8. Smith, D.J., Zhu, Y., Zhang, J., Cheng, J.F. and Rubin, E.M. (1995) Construction of a panel of transgenic mice containing a contiguous 2Mb set of YAC/P1 clones from human chromosome 21q22.2. Genomics, 27, 425-434.
9. Smith, D.J., Stevens, M.E., Sudanagunta, S.P., Bronson, R.T., Makhinson, M., Watabe, A.M., O'Dell, T.J., Fung, J., Weier, H.-U.G., Cheng, J.-F. and Rubin, E.M. (1997) Functional screening of 2Mb of human chromosome 21q22.2 in transgenic mice implicates minibrain in learning defects associated with Down syndrome. Nature Genet., 16, 28-36.
10. Rasheed, S., Nelson-Rees, W.A., Toth, E.M., Arnstein, P. and Gardner, M.B. (1974) Characterization of a newly derived human sarcoma cell line (HT-1080). Cancer, 33, 1027-1033.
11. Saxon, P.J., Srivatsan, E.S., Leipzig, G.V., Sameshima, J.H. and Stanbridge, E.J. (1985) Selective transfer of individual human chromosomes to recipient cells. Mol. Cell. Biol., 5, 140-146.
12. Dowdy, S.F., Scanlon, D.J., Fasching, C.L., Casey, G. and Stanbridge, E.J. (1990) Irradiation microcell mediated chromosome transfer (XMMCT): the generation of specific chromosomal arm deletions. Genes Chromosomes Cancer, 2, 318-327.
13. Koi, M., Johnson, L.A., Kalikin, L.M., Little, P.F.R., Nakamura, Y. and Feinberg, A.P. (1993) Tumor cell growth arrest caused by subchromosomal transferable DNA fragments from chromosome 11. Science, 260, 361-364.
14. Fournier, R.E.K. and Ruddle, F.H. (1977) Microcell mediated transfer of murine chromosomes into mouse, Chinese hamster, and human somatic cells. Proc. Natl Acad. Sci. USA, 74, 319-323.
15. Shen, M.H., Yang, J., Loupart, M.-L., Smith, A. and Brown, W. (1997) Human mini-chromosomes in mouse embryonal stem cells. Hum. Mol. Genet., 6, 1375-1382.
16. Stubblefield, E. and Pershouse, M. (1992) Direct formation of microcells from mitotic cells for use in chromosome transfer. Somat. Cell Mol. Genet., 18, 485-491.
17. Goss, S.J. and Harris, H. (1975) New method for mapping genes in human chromosomes. Nature, 255, 680-684.
18. Siden, T.S., Kumlien, J., Schwartz, C.E. and Rshme, D. (1992) Radiation fusion hybrids for human chromosomes 3 and X generated at various irradiation doses. Somat. Cell Mol. Genet., 18, 33-44.
19. Goodfellow, RJ., Povey, S., Nevanlinna, H.A. and Goodfellow, P.N. (1990) Generation of a panel of cell hybrids containing unselected fragments of human chromosome 10 by X-ray irradiation and cell fusion: application to isolating the MEN2A region in hybrid cells. Somat. Cell Mol. Genet., 16, 163-171.
20. Walter, M. A. and Goodfellow, P.N. (1993) Radiation hybrids: irradiation and fusion gene transfer. Trends Genet., 9, 352-356.
21. Cox, D.R., Burmeister, M., Price, E.R., Kim, S. and Myers, R.M. (1990) Radiation hybrid mapping: a somatic cell genetic method for constructing high-resolution maps of mammalian chromosomes. Science., 250, 245-250.
22. Collins, A., Frezal, J., Teague, J. and Morton, N.B. (1996) A metric map of humans: 23,500 loci in 850 bands. Proc. Natl Acad. Sci. USA, 93, 14771-14775.
23. Ohira, M., Ichikawa, H., Suzuki, E., Iwaki, M., Suzuki, K., Saito-Ohara, F., Ikeuchi, T., Chumakov, I., Tanahashi, H., Tashiro, K., Sakaki, Y. and Ohki, M. (1996) A 1.6-Mb P1-based physical map of the Down syndrome region on chromosome 21. Genomics, 33, 65-74.
24. Mjaatvedt, A., Cabin, D., Cole, S., Long, L., Breitwieser, G. and Reeves, R. (1995) Assessment of a mutation in the H5 domain of Girk2 as a candidate for the weaver mutation. Genome Res., 5, 453-463.
25. Rogers, D.C., Fisher, E.M.C., Brown, S.D.M., Peters, J., Hunter, A.J. and Martin, J.E. (1997) Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm. Genome., 8, 711-713.
26. Connor, F., Bertwistle, D., Mee, P.J., Ross, G.M., Swift, S., Grigorieva, E., Tybulewicz, V.L.J. and Ashworth, A. (1997) Tumorigenesis and a DNA repair defect in mice with a truncating Brca1 mutation. Nature Genet., 17, 423-431.
27. Sumarsono, S.H., Wilson, T.J., Tymms, M.J., Venter, D.J., Corrick, C.M., Kola, R., Lahoud, M.H., Papas, T.S., Seth, A. and Kola, I. (1996) Down's syndrome-like skeletal abnormalities in Ets2 transgenic mice. Nature, 379, 534-537.
28. Kola, I. and Hertzog, P. (1998) Down syndrome and mouse models. Curr. Opin Genet. Dev., 8, 316-321.
29. FitzSimmons, J., Droste, S., Shepard, T.H., Pascoe-Mason, J., Chinn, A. and Mack, L.A. (1989) Long-bone growth in fetuses with Down syndrome. Am. J. Obstet. Gynecol., 161, 1174-1177.
30. Davisson, M.T., Schmidt, C., Reeves, R.H., Irving, N.G., Akeson, E.C., Harris, B.S. and Bronson, R.T. (1993) Segmental trisomy as a mouse model for Down syndrome. Prog. Clin. Biol. Res., 384, 117-133.
31. Sago, H., Carlson, E., Smith, D., Kilbridge, J., Rubin, E., Mobley, W., Epstein, C. and Huang, T. (1998) Ts1Cje, a partial trisomy 16 mouse model for Down syndrome, exhibits learning and behavioral abnormalities. Proc. Natl Acad. Sci. USA, 95, 6256-6261.
32. Reeves, R.H., Irving, N.G., Moran, T.H., Wohn, A., Kitt, C., Sisodia, S.S., Schmidt, C., Bronson, R.T. and Davisson, M.T. (1995) A mouse model for Down syndrome exhibits learning and behavioural deficits. Nature Genet., 11, 177-184.
33. Ramirez-Solis, R., Liu, P. and Bradley, A. (1995) Chromosome engineering in mice. Nature, 378, 720-724.
34. Herault, Y., Rassoulzadegan, M., Cuzin, F. and Duboule, D. (1998) Engineering chromosomes in mice through targeted meiotic recombination (TAMERE). Nature Genet., 20, 381-384.
35. Yamakawa, K., Huo, Y-K., Haendel, M.A., Hubert, R., Chen, X.-N., Lyons, G.E. and Korenberg, J.R. (1998) DSCAM: a novel member of the immunoglobulin superfamily maps in a Down syndrome region and is involved in the development of the nervous system. Hum. Mol. Genet., 7, 227-237.
36. Tomizuka, K., Yoshida, H., Uejima, H., Kugoh, H., Sato, K., Ohguma, A., Hayasaka, M., Hanoka, K., Oshimura, M. and Ishida, I. (1997) Functional expression and germline transmission of a human chromosome fragment in chimaeric mice. Nature Genet., 16, 133-143.
37. Dieken, E.S., Epner, E.M., Fiering, S., Fournier, R.E.K. and Groudine, M. (1996) Efficient modification of human chromosomal alleles using recombination-proficient chicken/human microcell hybrids. Nature Genet., 12, 174-181.
38. Buerstedde, J.M. and Takeda, S. (1991) Increased ratio of targeted to random integration after transfection of chicken B cell lines. Cell, 67, 179-188.
39. Kuroiwa, Y., Shinohara, T., Notsu, T., Tomizuka, K., Yoshida, H., Takeda, S.-I., Oshimura, M. and Ishida, I. (1998) Efficient modification of a human chromosome by telomere-directed truncation in high homologous recombination-proficient chicken DT40 cells. Nucleic Acids Res., 26, 3447-3448.
40. Tybulewicz, V.L.J., Crawford, C.E., Jackson, P.K., Bronson, R.T. and Mulligan, R.C. (1991) Neonatal lethality and lymphopenia in mice with a homozygous disruption of the c-abl proto-oncogene. Cell, 65, 1153-1163.
41. Itzhaki, J.E., Gilbert, C.S. and Porter, A.C.G. (1997) Construction by gene targeting in human cells of a 'conditional' CDC2 mutant that rereplicates its DNA. Nature Genet., 15, 258-265.
42. Lichter, P., Tang, C.C., Call, K., Hermanson, G., Evans, G.A., Housman, D. and Ward, D.C. (1990) High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones. Science, 247, 64-69.
43. Lichter, P., Ledbetter, S.A., Ledbetter, D.H. and Ward, D.C. (1990) Fluorescence in situ hybridization with Alu and L1 polymerase chain reaction probes for rapid characterization of human chromosomes in hybrid cell lines. Proc. Natl Acad. Sci. USA, 87, 6634-6638.
44. Nelson, D.L., Ledbetter, S.A., Corbo, L., Victoria, M.F., Ramirez-Solis, R., Webster, T.D., Ledbetter, D.H. and Caskey, C.T. (1989) Alu polymerase chain reaction: a method for rapid isolation of human specific sequences from complex DNA sources. Proc. Natl Acad. Sci. USA, 86, 6686-6690.
45. Bradley, A. (1987) Production and analysis of chimeric mice. In Robertson, E.A. (ed.), Teratocarcinomas and Embryonic Stem Cells: A Practical Approach. Oxford University Press, Oxford, pp. 113-152.
46. Mansour, S.L., Thomas, K.R. and Capecchi, M.R. (1988) Disruption of the proto-oncogene int-2 in mouse embryo-derived stem cells: a general strategy for targeting mutations to non-selectable genes. Nature, 336, 348-352.
47. Tanzi, R.E., Romano, D.M., Berger, R., Buraczynska, M.J., Gaston, S.M., Kurnit, D.M., Patterson, D., Gusella, J.F. and Stewart, G.D. (1992) Sequence-tagged sites (STSs) for a set of mapped markers on chromosome 21. Genomics, 14, 498-502.
48. Yulug, I.G., Katsanis, N., de Belleroche, J., Collinge, J. and Fisher, E.M.C. (1995) An improved protocol for the analysis of SOD1 gene mutations, and a new mutation in exon 4. Hum. Mol. Genet., 6, 1101-1104.
49. Hernandez, D. and Fisher, E.M.C. (1999) Mouse autosomal trisomy: two's company, three's a crowd. Trends Genet., in press.