A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region

Human Molecular Genetics

Volumn 6, Issue 2, 1997, Pages 317-324

  Wright, Tracy J ^a   Ricke, Darrell O ^a   Denison, Karen ^a   Abmayr, Simone ^a   Cotter, Philip D ^b   Hirschhorn, Kurt ^b   Keinänen, Mauri ^c   McDonald McGinn, Donna ^d   Somer, Mirja ^e   Spinner, Nancy ^d   Yang Feng, Theresa ^f   Zackai, Elaine ^d   Altherr, Michael R ^a,g  

^a LOS ALAMOS NATIONAL LABORATORY   (United States)

^b MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^c Medix Clinical Laboratory   (Finland)

^d CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^e Vaestoliitto   (Finland)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA MARKER;

AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHILD; DATA BASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MAPPING; HUMAN; HUMAN CELL; MALE; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; WOLF HIRSCHHORN SYNDROME;

CANIS;

EID: 8044224043     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.2.317     Document Type: Article

References (44)

1. Lurie, I. W., Lazjuk, G. I., Ussova, Y. I., Presman, E. B. and Gurevich, D. B. (1980) The Wolf-Hirschhorn syndrome. Clin. Genet., 17, 375-384.
2. Smith, B., Skarecky, D., Bengtsson, U., Magenis, R. E., Carpenter, N. and Wasmuth, J. J. (1988) Isolation of DNA markers in the direction of the Huntington disease gene from the G8 locus. Am. J. Hum. Genet., 42, 335-344.
3. Wilson, M. G., Towner, J. W., Coffin, G. S., Ebbin, A. J., Siris, E. and Brager, P. (1981) Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome [del (4p)]. Hum. Genet., 59, 297-307.
4. Hirschhorn, K., Cooper, H. L. and Firschein, I. L. (1965) Deletion of short arms of chromosome 4-5 in a child with defects of midline fusion. Humangenetik, 1, 479-482.
5. Wolf, U., Reinwein, H., Porsch, R., Schroter, R. and Baitsch, H. (1965) Defizienz an den kurzen Armen eines Chromosoms nr. 4. Humangenetik, 1, 397-413.
6. Altherr, M. R., Bengtssson, U., Elder, F. F. B., Ledbetter, D. H., Wasmuth, J.J., McDonald, M. E., Gusella, J. F. and Greenberg, F. (1991) Molecular confirmation of Wolf-Hirschhorn Syndrome with a subtle translocation of chromosome 4. Am. J. Hum Genet., 49, 1235-1242.
7. Johnson, W. P., Altherr, M. R., Blake, J. M. and Keppen, L. D. (1994) FISH detection of Wolf-Hirschhorn syndrome: Exclusion of D4F26 as critical site. Am. J. Med. Genet., 52, 70-74.
8. Roulston, D., Altherr, M., Wasmuth, J. J., Christian, C., Graham, J. and Schreck, R. R. (1991) Confirmation of a suspected deletion of 4p16 by fluorescent in situ hybridization (FISH) with a cosmid probe. Am. J. Hum. Genet., 49, 274.
9. Zuo, J., Robbins, C., Baharloo, S., Cox, D. R. and Myers, R. M. (1993) Construction of cosmid contigs and high-resolution restriction mapping of the Huntington disease region of chromosome 4. Hum. Mol. Genet., 2, 889-899.
10. Bates, G. P., MacDonald, M. E., Baxendale, S., Youngman, S., Lin, C., Whaley, W. L., Wasmuth, J. J., Gusella, J. F. and Lehrach, H. (1991) Defined physical limits of the Huntington disease gene candidate region, Am. J. Hum. Genet., 49, 7-16.
11. Baxendale, S., MacDonald, M. E., Mott, R., Francis, F., Lin, C., Kirby, S. F., James, M., Zehetner, G., Hummerich, H., Valdes, J., Collins, F. S., Deaven, L. J., Gusella, J. F., Lehrach, H. and Bates, G. P. (1993) A cosmid contig and high resolution restriction map of the 2 megabase region containing the Huntington's disease gene. Nature Genet., 4, 181-186.
12. Gandelman, K.-Y., Gibson, L., Meyn, M. S. and Yang-Feng, T. L. (1992) Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Am. J. Hum. Genet., 51, 571-578.
13. Altherr, M. R., Wright, T. J., Denison, K., Perez-Castro, A. V. and Johnson, V. P, (1997) Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs. Am. J. Med. Genet., in press.
14. Gilliam, T. C., Bucan, M., MacDonald, M. E., Zimmer, M., Haines, J. L., Cheng, S. V., Pohl, T. M., Meyers, R. H., Whaley, W. L., Allitto, B. A., Farynlarz, A., Wasmuth, J. J., Frischauf, A.-M., Conneally, P M., Lehrach, H. and Gusella, J. F. (1987) A DNA segment encoding two genes very tightly linked to Huntington's disease. Science, 238, 950-952.
15. John, R. M., Robbins, C. A. and Myers, R. M. (1994) Identification of genes within CpG-enriched DNA from human chromosome 4p16.3. Hum. Mol. Genet., 3, 1611-1616.
16. Rommens, J. M., Lin, B., Hutchinson, G. B., Andrew, S. E., Goldberg, Y. P., Glaves, M. L., Graham, R., Lai, V., McArthur, J., Nasir, J., Theilman, J., McDonald, H., Kalchman, M., Clarke, L. A., Schappert, K. and Hayden, M. R. (1993) A transcription map of the region containing the Huntington disease gene. Hum. Mol. Genet., 2, 910-907.
17. Snell, R. G., Doucette-Stamm, K. A., Gillespie, K. M., Taylor, S. A. M., Riba, L., Bates, G. P., Altherr, M. R., MacDonald, M. E., Gusella, J. F., Wasmuth, J. J., Lehrach, H., Dousman, D. E., Harper, P. S. and Shaw, D. J. (1993) The isolation of cDNAs within the Huntington disease region by hybridisation of yeast artificial chromosomes to a cDNA library. Hum. Mol. Genet., 2, 305-309.
18. Ricke, D. O., Mundt, M.O., Buckingham, J. M., Deaven, L. L. and Moyzis, R. K. (1996) Whole genome sequence sampling and gene analysis and annotation of megabases of low redundancy human chromosome 16p13 SAmple Sequencing Comparison Analysis (SCAN). Microb. Compar. Genomics, 1, 264.
19. Magenis, R.E., Gusella, J., Weliky, K., Olson, S., Haight, G., Toth-Fejel, S.E. and Sheehy, R. (1986) Huntington disease-linked restriction fragment length polymorphism localized within band p 16.1 of chromosome 4 by in situ hybridization. Am. J. Hum. Genet., 39, 383-391.
20. White, D. M., Pillers, D.-A. M., Reiss, J. A., Brown, M. G. and Magenis, R. E. (1995) Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation. Am. J. Med. Genet., 57, 588-597.
21. Whaley, W. L., Bates, G. P., Novelletto, A., Sedlacek, Z., Cheng, S., Romano, D., Ormondroyd, E., Allitto, B., Lin, C., Youngman, S., Baxendale, S., Bucan, M., Altherr, M., Wasmuth, J., Wexler, N. S., Frontali, M., Frischauf, A.-M., Lehrach, H., MacDonald, M. E. and Gusella, J. F. (1991) Mapping of cosmid clones in Huntington's disease region of chromosome 4. Som. Cell Mol. Genet., 17, 83-91.
22. Francke, U., Arias, D. E. and Nyhan, W. L. (1977) Proximal 4p- deletion: Phenotype differs from classical 4p- syndrome. J. Pediat., 90, 250-252.
23. Pitt, D., Rogers, J. G. and Danks (1984) Mental retardation, unusual face, and intrauterine growth retardation. Am. J. Med. Genet., 19, 307-313.
24. Clemens, M., W, M. E. and Suit, U. (1995) 4p microdeletion in a child with Pitt-Rogers-Danks syndrome. Am. J. Hum. Genet., 57, A85.
25. Estabrooks, L. L., Rao, K. W., Driscoll, D. A., Crandall, B. F., Dean, J. C. S., Ikonen, E., Korf, B. and Aylsworth, A. S. (1995) Preliminary phenotypic map of chromosome 4p16 based on 4p deletions. Am. J. Med. Genet., 57, 581-586.
26. Zackai, E. H., McDonald-McGinn, D. M., Spinner, N., Altherr, M. R., Bengtsson, U. and Wasmuth, J. J. (1994) Classical Wolf-Hirschhorn syndrome confirmed molecularly despite normal results using commercially available probes: Redefinition of critical region. Am. J. Hum. Genet., 55, A11.
27. Somer, M., Peippo, M. and Keinanen, M. (1995) Controversial findings in two patients with commercially available probe D4S96 for the Wolf-Hirschhorn syndrome. Am. J. Hum. Genet., 57, A127.
28. Riess, O., Siedlaczck, I., Kredtke, S., Melmer, G., Epplen, J. T. and Deaven, L. L. (1994) Characterization of a human chromosome 4 flow-sorted cosmid library. Cytogenet. Cell Genet., 65, 238-242.
29. Altherr, M. R., Smith, B., MacDonald, M. E., Hall, L. and Wasmuth, J. J. (1989) Isolation of a novel mildly repetitive DNA sequence that is predominantly located at the terminus of the short arm of chromosome 4 near the Huntington disease gene. Genomics, 5, 581-588.
30. Hewitt, J. E., Clark, L. N., Ivens, A. and Williamson, R. (1991) Structure and sequence of the human homeobox gene HOX-7. Genomics, 11, 670-678.
31. Gusella, J. F., Altherr, M. R., McClatchey, A. I., Doucette-Stamm, L. A., Tagle, D., Plummer, S., Groot, N., Barnes, G., Hummerich, H., Collins, F. S., Housman, D. E., Lehrach, H., MacDonald, M. E., Bates, G. and Wasmuth, J. J. (1992) Sequence-tagged sites (STSs) spanning 4p16.3 and the Huntington disease candidate region. Genomics, 13, 75-80.
32. Lichter, P., Chang, C-J., 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.
33. Benson, D. A., Boguski, M., Lipman, D. J. and Ostell, J. (1996) GenBank. Nucleic Acids Res, 24, 1-5.
34. George, D. G., Barker, W. C., Mewes, H. W., Pfeiffer, F. and Tsugita, A. (1996) The PIR-International Protein Sequence Database. Nucleic Acids Res., 24, 17-20.
35. Bairoch, A. and Apweiler, R. (1996) The SWISS-PROT protein sequence data bank and its new supplement TREMBL. Nucleic Acids Res., 24, 21-25.
36. Boguski, M. S., Lowe, T. M. and Tolstoshev, C. M. (1993) dbEST-database for expressed sequence tags' [letter]. Nature Genet., 4, 332-3.
37. Altschul, S. F., Gish, W., Miller, W., Myers, E. W. and Lipman, D. J. (1990) Basic local alignment search tool. J. Mol. Biol., 215, 403-410.
38. Gish, W. and States, D. J. (1993) Identification of protein coding regions by database similarity search. Nature Genet., 3, 266-272.
39. Lipman, D. J. and Pearson, W. R. (1985) Rapid and sensitive protein similarity searches. Science, 227, 1435-1441.
40. Uberbacher, E. C. and Mural, R. J. (1991) Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach. Proc. Natl. Acad. Sci. USA, 88, 11261-11265.
41. Devereux, J., Haeberli, P. and Smithies, O. (1984) A comprehensive set of sequence analysis programs for the VAX. Nucleic Acids Res., 12, 387-395.
42. Auffray, C, Behar, G., Bois, F., Bouchier, C., Dasilva, C., Devignes, M., Duprat, S., Houlgatte, R., Jumeau, M., Lamy, B., Lorenzo, F., Mitchell, H., Mariagesamson, R., Pietu, G., Pouliot, Y., Sebastianikabaktchis, C. and Tessier, A. (1995) IMAGE: Integrated molecular analysis of the human genome and its expression. C.R. Acad. Sci. III, 318, 263-272.
43. Adams, M. D., Dubnick, M., Kerlavage, A. R., Moreno, R., Kelley, J. M., Utterback, T. R., Nagle, J. W., Fields, C. and Venter, J. C. (1992) Sequence identification of 2375 human brain genes. Nature, 355, 632-634.
44. Mills, K. A., Buetow, K. H., Xu, Y., Ritty, T. M., Mathews, K. D., Bodrug, S. E., Wijmenga, C., Balazs, I. and Murray, J. C. (1992) Genetic and physical mapping on chromosome 4 narrows the localization of the gene for facioscapulohmeral muscular dystrophy (FSHD). Am. J. Hum. Genet., 51, 432-439.