Cloning of a novel homeobox-containing gene, PKNOX1, and mapping to human chromosome 21q22.3

Genomics

Volumn 41, Issue 2, 1997, Pages 193-200

  Chen, Haiming ^a   Rossier, Colette ^b   Nakamura, Yusuke ^c   Lynn, Audrey ^d   Chakravarti, Aravinda ^d   Antonarakis, Stylianos E ^a,b,e  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c CANCER INSTITUTE   (Japan)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Centre médical universitaire   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; HOMEODOMAIN PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 12Q; DOWN SYNDROME; EXON; GENETIC LINKAGE; HOMEOBOX; HUMAN; HUMAN TISSUE; MOLECULAR CLONING; MONOGENIC DISORDER; PRIORITY JOURNAL;

MAMMALIA;

EID: 0031569841     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1997.4632     Document Type: Article

References (49)

1. Aaltonen, J., Bjorses, P., Sandkuijl, L., Perheentupa, J., and Peltonen, L. (1994). An autosomal locus causing autoimmune disease: Autoimmune polyglandular disease type I assigned to chromosome 21. Nature Genet. 8: 83-87.
2. Antonarakis, S. E. (1993). Human chromosome 21: Genome mapping and exploration, circa 1993. Trends Genet. 9: 142-148.
3. Antonarakis, S. E., Patterson, D., Van Broeckhoven, C., Shimizu, N., Gardiner, K., Delabar, J., Korenberg, J., and Reeves, R. (1995). Report of the Committee on the Genetic Constitution of Chromosome 21. In "Human Genome Mapping 1994" (A. J. Cuttichia, Ed.), pp. 732-766, Johns Hopkins Press, Baltimore.
4. Brunelli, S., Faiella, A., Capra, V., Nigro, V., Simeone, A., Cama, A., and Boncinelli, E. (1996). Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly. Nature Genet. 12: 94-96.
5. Buckler, A. J., Chang, D. D., Graw, S. L., Brook, J. D., Haber, D. A., Sharp, P. A., and Housman, D. E. (1991). Exon amplification: A strategy to isolate mammalian genes based on RNA splicing. Proc. Natl. Acad. Sci. USA 88: 4005-4009.
6. Chen, H., Morris, M. A., Rossier, C., Blouin, J. L., and Antonarakis, S. E. (1995). Cloning of the cDNA for the human ATP synthase subunit (ATP5O) by exon trapping and mapping to chromosome 21. Genomics 28: 470-476.
7. Chen, H., Chrast, R., Rossier, C., Morris, M. A., Lalioti, M. D., and Antonarakis, S. E. (1996a). Cloning of 559 potential exons of the genes of human chromosome 21 by exon trapping. Genome Res. 6: 747-760.
8. Chen, H., Rossier, C., Lalioti, M. D., Lynn, A., Chakravarti, A., and Antonarakis, S. E. (1996b). Cloning the cDNA for a human homologue of the Drosophila white gene and mapping to chromosme 21q22.3. Am. J. Hum. Genet. 59: 66-75.
9. Cheng, J. F., Boyartchuk, V., and Zhu, Y. (1994). Isolation and mapping of human chromosome 21 cDNA: Progress in constructing a chromosome 21 expression map. Genomics 23: 75-84.
10. Chumakov, I., Rigault, P., Guillou, S., Ougen, P., Billaut, A., Guasconi, G., Gervy, P., LeGall, I., Soularue, P., Grinas, L., Bougueleret, L., Bellanne-Chantelot, C., Lacroix, B., Barillot, E., Gesnouin, P., Pook, S., Vaysseix, G., Frelat, G., Schmitz, A., Sambucy, J. L., Bosch, A., Estivill, X., Weissenbach, J., Vignal, A., Riethman, H., Cox, D., Patterson, D., Gardiner, K., Hattori, M., Sakaki, Y., Ichikawa, H., Ohki, M., Le Paslier, D., Heilig, R., Antonarakis, S. E., and Cohen, D. (1992). A continuum of overlapping clones spanning the entire human chromosome 21q. Nature 359: 380-386.
11. Dausset, J., Cann, H., Cohen, D., Lathrop, M., Lalouel, J. M., and White, R. (1990). Centre d'Etude du Polymorphisme Humain: Collaborative genetic mapping of the human genome. Genomics 6: 575-577.
12. 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.
13. Drwinga, H. L., Toji, L. H., Kim, C. H., Greene, A. E., and Mulivor, R. A. (1993). NIGMS human/rodent somatic cell hybrid mapping panels 1 and 2. Genomics 16: 311-314.
14. Epstein, C. J. (1995). Down syndrome (Trisomy 21). In "The Metabolic and Molecular Bases of Inherited Disease" (C. R. Scriver, A. L. Beaudet, W. Sly, and D. Valle, Eds.), 7th ed., pp. 749-794, McGraw-Hill, New York.
15. Fong, C-T., and Brodeur, G. M. (1987). Down syndrome and leukemia: Epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet. Cytogenet. 28: 55-76.
16. Gehring, W. J., Affolter, M., and Bürglin, T. (1994). Homeodomain proteins. Annu. Rev. Biochem. 63: 487-526.
17. Hake, S., Vollbrecht, E., and Freeling, M. (1989). Cloning Knotted, the dominant morphological mutant in maize using Ds2 as a transposon tag. EMBO J. 8: 15-22.
18. Horan, G. S. B., Wu, K., Wolgemuth, D. J., and Behringer, R. R. (1994). Homeotic transformation of cervical vertebrae in Hoxa-4 mutant mice. Proc. Natl. Acad. Sci. USA 91: 12644-12648.
19. Ichikawa, H., Hasada, F., Arai, Y., Shimizu, K., Ohira, M., and Ohki, M. (1993). A Not I restriction map of the entire long arm of human chromosome 21. Nature Genet. 4: 361-366.
20. Jabs, E. W., Müller, U., Li, X., Ma, L., Luo, W., Haworth, I. S., Klisak, I., Sparkes, R., Warman, M. L., Mulliken, J. B., Snead, M. L., and Maxson, R. (1993). A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosy-nostosis. Cell 75: 443-450.
21. Jegalian, B. G., and de Robertis, E. M. (1992). Homeotic transformations in the mouse induced by overexpression of the human Hox3.3 transgene. Cell 71: 901-910.
22. Kamps, M. P., Murre, C., Sun, X-H., and Baltimore, D. (1990). A new homeobox gene contributes the DNA binding domain of the t(1;19) translocation protein in pre-B ALL. Cell 60: 547-555.
23. Korenberg, J. R., Chen, X. N., Schiper, Z., Gonsky, R., Gerwehr, S., Carpenter, N., Daumer, C., Dignan, P., Disteche, C., Graham, J. M., Jr., Hugdins, L., McGillivray, B., Miyazaki, K., Ogasawara, N., Park, J. P., Pagon, R., Pueschel, S., Sack, G., Say, B., Schuffenhauer, S., Soukup, S., and Yamanaka, T. (1994). Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc. Natl. Acad. Sci. USA 91: 4997-5001.
24. Kozak, M. (1991). Structure features in eukaryotic mRNAs that modulate the initiation of translation. J. Biol. Chem. 266: 19867-19870.
25. Krumlauf, R. (1994). Hox genes in vertebrate development. Cell 78: 191-201.
26. Lincoln, C., Long, J., Yamaguchi, J., Serikawa, K., and Hake, S. (1994). A Knotted1-like homeobox gene in Arabidopsis is expressed in the vegetative meristem and dramatically alters leaf morphology when overexpressed in transgenic plants. Plant Cell 6: 1859-1876.
27. Long, J. A., Moan, E. I., Medford, J. I., and Kathryn Barton, M. (1996). A member of the Knotted class of homeodomain proteins encoded by the STM gene of Arabidopsis. Nature 379: 66-69.
28. Lucente, D., Chen, H. M., Shea, D., Samec, S. N., Rutter, M., Rossier, C., Buckler, A., Antonarakis, S. E., and McCormick, M. K. (1995). Localization of 102 exons to a 2.5 Mb region involved in Down syndrome. Hum. Mol. Genet. 4: 1305-1311.
29. Ma, H., McMullen, M. D., and Finer, J. J. (1994). Identification of a homeobox-containing gene with enhanced expression during soybean (Glycine max L.) somatic embryo development. Plant Mol. Biol. 24: 465-473.
30. Matise, T., Perlin, M., and Chakravarti, A. (1994). Automated construction of genetic linkage maps using an expert system (MultiMap): A human genome linkage map. Nature Genet. 6: 384-390.
31. Matsuoka, M., Ichikawa, H., Saito, A., Tada, Y., Fujimura, T., and Kano-Murakami, Y. (1993). Expression of a rice homeobox gene causes altered morphology of transgenic plants. Plant Cell 5: 1039-1048.
32. McInnis, M. G., Chakravarti, A., Blaschak, J., Petersen, M. B., Sharma, V., Avramopoulos, D., Blouin, J. L., König, U., Brahe, C., Cox Matise, T., Warren, A. C., Talbot, C. C., Jr., Van Broeckhoven, C., Litt, M., and Antonarakis, S. E. (1993). A linkage map of human chromosome 21: 43 PCR markers at average intervals of 2.5 cM. Genomics 16: 562-571.
33. Monica, K., Galili, N., Nourse, J., Saltman, D., and Cleary, M. L. (1991). PBX2 and PBX3, new homeobox genes with extensive homology to the human proto-oncogene PBX1. Mol. Cell. Biol. 11: 6149-6157.
34. Moskow, J. J., Bullrich, F., Huebner, K., Daar, I. O., and Buchberg, A. M. (1995). Meis1, a PBX1-related homeobox gene involved in myeloid leukemia in BXH-2 mice. Mol. Cell. Biol. 15: 5434-5443.
35. Muenke, M. M., Bone, L. J., Mitchell, H. F., Hart, I., Walton, K., Hall-Johnson, K., Ippel, E. F., Dietz-band, J., Kvaloy, K., Fan, C. M., Tessier-lavigne, M., and Patterson, D. (1995). Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping SIM2 to a region of chromosome 21 important for Down syndrome. Am. J. Hum. Genet. 57: 1074-1079.
36. Muragaki, Y., Mundlos, S., Upton, J., and Olsen, B. R. (1996). Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13. Science 272: 548-550.
37. Nakamura, T., Largaespada, D. A., Shaughnessy, J. D., Jr., Jenkins, N. A., and Copeland, N. G. (1996). Cooperative activation of Hoxa and Pbx1-related genes in murine myeloid leukemia. Nature Genet. 12: 149-153.
38. Osoegawa, K., Susukida, R., Okano, S., Kudoh, J., Minoshima, S., Shimizu, N., De Jong, P., Groet, J., Ives, J., Lehrach, H., Nizetic, D., and Soeda, E. (1996). An integrated map with cosmid/PAC contigs of 4-Mb Down syndrome critical region. Genomics 32: 375-387.
39. Patterson, D., Rahmani, Z., Donaldson, D., Gardiner, K., and Jones, C. (1993). Physical mapping of chromosome 21. Prog. Clin. Biol. Res. 384: 33-50.
40. Peterson, A., Patil, N., Robbins, C., Wang, L., Cox, D. R., and Myers, R. M. (1994). A transcript map of the Down syndrome critical region on chromosome 21. Hum. Mol. Genet. 3: 1735-1742.
41. Reeves, R. H., Irving, N. G., Moran, T. H., Wohn, A., Kitt, C., Sisodia, S., Schmidt, C., Bronson, R. T., and Davisson, M. T. (1995). A mouse model for Down syndrome exhibits learning and behaviour deficits. Nature Genet. 11: 177-184.
42. Sertié, A. L., Quimby, M., Moreira, E. S., Murray, J., Zatz, M., Antonarakis, S. E., and Passos-Bueno, M. R. (1996). A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. Hum. Mol. Genet. 5: 843-847.
43. Soeda, E., Hou, D. X., Osoegawa, K., Atshuchi, Y., Yamagata, T., Shimokawa, T., Kishida, H., Soeda, E., Okano, S., Chumakov, I., Cohen, D., Raff, M., Gardiner, K., Graw, S. L., Patterson, D., Jong, P. D., Ashworth, L. K., Slezak, T., and Carrano, A. V. (1995). Cosmid assembly and anchoring to human chromosome 21. Genomics 25: 73-84.
44. Sudo, K., Chinen, K., and Nakamura, Y. (1994). 2058 expressed sequence tags (ESTs) from a human fetal lung cDNA library. Genomics 24: 276-279.
45. Tassone, F., Xu, H, Burkin, H., Weissman, S. M., and Gardiner, K. (1995). cDNA selection from 10 Mb of chromosome 21 DNA: Efficiency in transcriptional mapping and reflections of the genome organization. Hum. Mol. Genet. 4: 1509-1518.
46. Vastardis, H., Karimbux, N., Guthua, S. W., Seidman, J. G., and Seidman, C. E. (1996). A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nature Genet. 13: 417-421.
47. Veske, A., Oehlmann, R., Younus, F., Mohyuddin, A., Müller-Myhsok, B., Mehdi, S. Q., and Gal, A. (1996). Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum. Mol. Genet. 5: 165-168.
48. Vollbrecht, E., Veit, B., Sinha, N., and Hake, S. (1991). The developmental gene Knotted-1 is a member of a maize homeobox gene family. Nature 350: 241-243.
49. Yaspo, M. L., Gellen, L., Mott, R., Korn, B., Nizetic, D., Poustka, A., and Lehrach, H. (1995). Model for a transcript map of human chromosome 21: Isolation of new coding sequences from exon and enriched cDNA libraries. Hum. Mol. Genet. 4: 1291-1304.