Refinement of the Van der Woude gene location and construction of a 3.5- Mb YAC contig and STS map spanning the critical region in 1q32-q41

Genomics

Volumn 36, Issue 3, 1996, Pages 507-514

  Schutte, Brian C ^a   Sander, Achim ^b   Malik, Margaret ^a   Murray, Jeffrey C ^a  

^a UNIVERSITY OF IOWA   (United States)

^b UNIVERSITY OF HAMBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 1Q; CLEFT LIP FACE PALATE; CRANIOFACIAL MALFORMATION; GENE LOCATION; GENE MAPPING; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL;

EID: 0030587440     PISSN: 08887543     EISSN: None     Source Type: Journal    
DOI: 10.1006/geno.1996.0496     Document Type: Article

References (36)

1. Adams, M. D., Kelley, J. M., Gocayne, J. D., Dubnick, M., Polymeropoulos, M. H., Xiao, H., Merril, C. R., Wu, A., Olde, B., Moreno, R. F., Kerlavage, A. R., McCombie, W. R., and Venter, J. C. (1991). Complementary DNA sequencing: Expressed sequence tags and human genome project. Science 252: 1651-1656.
2. Albertsen, H. M., Abderrahim, H., Cann, H. M., Dausset, J., and Le Paslier, D. (1990). Construction and characterization of a yeast artificial chromosome library containing seven haploid human genome equivalents. Proc. Natl. Acad. Sci. USA 87: 4256-4260.
3. 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.
4. Atcheson, C. L., Di Domenico, B., Frackman, S., Esposito, R. E., and Elder, R. T. (1987). Isolation, DNA sequence, and regulation of a meiosis-specific eukaryotic recombination gene. Proc. Natl. Acad. Sci. USA 84: 8035-8039.
5. Berry, R., Stevens, T., Walter, N., Wilcox, A., Rubano, T., Hopkins, J., Weber, J., Goold, R., Soares, M., and Sikela, J. (1995). Genebased sequence-tagged-sites (STSs) as the basis for a human gene map. Nature Genet. 10: 415-423.
6. Burke, D. T., Carle, G. F., and Olson, M. V. (1987). Cloning of large segments of exogenous DNA into yeast by means of artificial chromosome vectors. Science 236: 806-812.
7. Chou, Q., Russell, M., Birch, D. E., Raymond, J., and Bloch, W. (1992). Prevention of pre-PCR mis-priming and primer dimerization improves low-copy-number amplifications. Nucleic Acids Res. 20: 1717-1723.
8. Chu, G., Vollrath, D., and Davis, R. W. (1986). Separation of large DNA molecules by contour-clamped homogeneous electric fields. Science 234: 1582-1585.
9. Cohen, D., Chumakov, I., and Weissenbach, J. (1993). A first-generation physical map of the human genome. Nature 366: 698-701.
10. Donis-Keller, H., Green, P., Helms, C., Cartinhour, S., Weiffenbach, B., Stephens, K., Keith, T. P., Bowden, D. W., Smith, D. R., Lander, E. S., Botstein, D., Akots, G., Rediker, K. S., Gravius, T., Brown, V. A., Risinc, M. B., Parker, C., Powers, J. A., Watt, D. E., Kauffman, E. R., Bricker, A., Phipps, P., Muller-Kahle, H., Fulton, T. R., Ng, S., Schumm, J. W., Braman, J. C., Knowlton, R. G., Barker, D. F., Crooks, S. M., Lincoln, S., Daly, M. J., and Abrahamson, J. (1987). A genetic linkage map of the human genome. Cell 51: 319-337.
11. Edery, P., Lyonnet, S., Mulligan, L. M., Pelet, A., Dow, E., Abel, L., Holder, S., Nihoul-Fékété, C., Ponder, B. A. J., and Munnich, A. (1994). Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367: 378-380.
12. Feinberg, A. P., and Vogelstein, B. (1983). A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132: 6-13.
13. Feinberg, A. P., and Vogelstein, B. (1984). A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity: Addendum. Anal. Biochem. 137: 266-267.
14. Gerring, S. L., Connelly, C., and Hieter, P. (1991). Positional mapping of genes by chromosome blotting and chromosome fragmentation. In "Guide to Yeast Genetics and Molecular Biology" (C. Guthrie and G. R. Fink, Eds.), Vol. 194, pp. 57-76, Academic Press, San Diego.
15. Green, E. D., and Olson, M. V. (1990). Systematic screening of yeast artificial-chromosome libraries by use of the polymerase chain reaction. Proc. Natl. Acad. Sci. USA 87: 1213-1217.
16. Kenwrick, S., Leversha, M., Rooke, L., Hasler, T., and Sonderegger, P. (1993). Localization of the human TAX-1 gene to 1q32.1: A region implicated in microcephaly and Van der Woude syndrome. Hum. Mol. Genet. 2: 1461-1462.
17. Khan, A. S., Wilcox, A. S., Polymeropoulos, M. H., Hopkins, J. A., Stevens, T., Robinson, M., Orpana, A. K., and Sikela, J. M. (1992). Single pass sequencing and physical and genetic mapping of human and genetic mapping of human brain cDNAs. Nature Genet. 2: 180-185.
18. Kimberling, W., Weston, D., Möller, C., van Aarem, A., Cremers, C., Sumegi, J., Ing, P., Conolly, C., Martini, A., Milani, M., Tamayo, M., Bernal, J., Greenberg, J., and Ayuso, C. (1995). Gene mapping of Usher syndrome type IIa: Localization of the gene to a 2.1-cM segment on chromosome 1q41. Am. J. Hum. Genet. 56: 216-223.
19. Morrison-Graham, K., and Weston, J. A. (1989). Mouse mutants provide insights into the role of extracellular matrix in cell migration and differentiation. Trends Genet. 5: 116-122.
20. Mullis, K. B. (1991). The polymerase chain reaction in an anemic mode: How to avoid cold oligodesoxyribonuclear fusion. PCR Methods Appl. 1: 1-4.
21. Murray, J. C., Nishimura, D. Y., Buetow, K. H., Ardinger, H. H., Spence, M. A., Sparkes, R. S., Falk, R. E., Falk, P. M., Gardner, R. J. M., Harkness, E. M., Glinski, L. P., Pauli, R. M., Nakamura, Y., Green, P. P., and Schinzel, A. (1990). Linkage of an autosomal dominant clefting syndrome (van der Woude) to loci on chromosome 1q. Am. J. Hum. Genet. 46: 486-491.
22. NIH/CEPH Collaborative Mapping Group (1992). A comprehensive genetic linkage map of the human genome. Science 258: 67-86.
23. Olson, M., Hood, L., Cantor, C., and Botstein, D. (1989). A common language for physical mapping of the human genome. Science 245: 1434-1435.
24. Pachnis, V., Mankoo, B., and Costantini, F. (1993). Expression of the c-ret proto-oncogene during mouse embryogenesis. Development 119: 1005-1017.
25. Polymeropoulos, M. H., Xiao, H., Sikela, J. M., Adams, M., Venter, J. C., and Merril, C. R. (1993). Chromosomal distribution of 320 genes from a brain cDNA library. Nature Genet. 4: 381-386.
26. Riley, J., Butler, R., Ogilvie, D., Finniear, R., Jenner, D., Powell, S., Anand, R., Smith, J. C., and Markham, A. F. (1990). A novel rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones. Nucleic Acids Res. 18: 2887-2890.
27. Rintala, A. E., and Ranta, R. (1981). Lower lip sinuses. I. Epidemiology, microforms and transverse sulci. Br. J. Plastic Surg. 34: 26-30.
28. Romeo, G., Ronchetto, P., Luo, Y., Barone, V., Seri, M., Ceccherini, I., Pasini, B., Bocciardi, R., Lerone, M., Kääriäinen, H., and Martuciello, G. (1994). Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease. Nature 367: 377-378.
29. Sander, A., Murray, J. C., Scherpbier-Heddema, T., Buetow, K. H., Weissenbach, J., Zingg, M., Ludwig, K., and Schmelzle, R. (1995). Microsatellite based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414. Am. J. Hum. Genet. 56: 310-318.
30. Sander, A., Schmelzle, R., and Murray, J. (1994). Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. Hum. Mol. Genet. 3: 575-578.
31. Schuchardt, A., D'Agati, V., Larsson-Blomberg, L., Costantini, F., and Pachnis, V. (1994). Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature 367: 380-383.
32. Shipley, J., Sheer, D., Dalton, S., Treisman, R., and Patel, K. (1994). Mapping of the human SAP1 (SRF accessory protein 1) gene and SAP2, a gene encoding a related protein, to chromosomal bands 1q32 and 12q23, respectively. Genomics 23: 710-711.
33. Shizuya, H., Birren, B., Kim, U. J., Mancino, V., Slepak, T., Tachiri, Y., and Simon, M. (1992). Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc. Natl. Acad. Sci. USA 89: 8794-8797.
34. Sztrolovics, R., Chen, X. N., Grover, I., Roughley, P. J., and Korenberg, J. R. (1994). Localization of the human fibromodulin gene (FMOD) to chromosome 1q32 and completion of the cDNA sequence. Genomics 23: 715-717.
35. Weston, M., and Kimberling, W. J. (1994). Dinucleotide repeat polymorphism for D1S70 (CRI-L461) on chromosome 1q41. Hum. Mol. Genet. 3: 1212.
36. Zhou, M. Y., Xue, D., Gomez-Sanchez, P., and Gomez-Sanchez, E. (1994). Improved downward capillary transfer for blotting of DNA and RNA. BioTechniques 16: 59.