Sequencing and analysis of genomic fragments from the NF1 locus

References

• Batzer M. A., Deininger P. L. A human-specific subfamily of Alu sequences. Genomics 1991; 9: 481–487
   PubMed Web of Science ®Google Scholar
• Berkvens T. M., Van Ormondt H., Gerritsen E. J.A., Meera Khan P., van der Erb A. J. Identical 3250-bp deletion between two Alu repeats in the ADA genes of unrelated ADA-SCID patients. Genomics 1990; 7: 486–490
   PubMedGoogle Scholar
• Cawthon R. M., Weiss R., Xu G., Viskochil D., Culver M., Stevens J., Robertson M., Dunn D., Gesteland R., O'Connell P., White R. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Coll 1990; 62: 193–201
   Google Scholar
• Economou E. P., Bergen A. W., Warren A. C., Antonarakis S. E. The polydeoxyadenylate tract of Alu repetitive elements is polymorphic in the human genome. Proc. Natl. Acad. Sci. USA 1990; 87: 2951–2954
   PubMed Web of Science ®Google Scholar
• Fountain J. W., Wallace M. R., Bruce M. S., Seizinger B. R., Menon A. G., Gusella J. F., Michels V. V., Schmidt M. A., Dewald G. W., Collins F. S. Physical mapping of a translocation breakpoint in neurofibromatosis. Science. 1989; 244: 1085–1087
   PubMed Web of Science ®Google Scholar
• Henikoff S., Eghtedarzadeh M. K. Conserved arrangement of nested genes at the Drosophila Gart locus. Genetics 1987; 117: 711–725
   PubMedGoogle Scholar
• Horsthemke B., Beisiegel V., Dunning A., Havinga J. R., Williamson R., Humphries S. Unequal crossing-over between two alu-repetitive DNA sequences in the low-density-lipoprotein-receptor gene. Eur. J. Biochem. 1987; 164: 77–81
   PubMedGoogle Scholar
• Jurka J., Milosavljevic A. A reconstruction and analysis of human Alu genes. J. Mol. Evol. 1991; 32: 105–121
   PubMed Web of Science ®Google Scholar
• Ledbetter D. H., Rich D. C., O'Connell P., Leppert M., Carey J. C. Precise localization of NF1 to 17q11.2 by-balanced translocation. Am. J. Hum: Genet. 1989; 44: 20–24
   PubMedGoogle Scholar
• Legius E., Marchuk D. A., Hall B. K., Andersen L. B., Wallace M. R., Collins F. S., Glover T. W. NF1 related locus on chromosome 15. Genomics 1992; 13, in press
   Google Scholar
• Lehrman M. A., Rusell D. W., Goldstein J. C., Brown M. S. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J. Biol. Chem. 1987; 262: 3354–3361
   PubMedGoogle Scholar
• Marchuk D. A., Saulino A. M., Tavakkol R., Swaroop M., Wallace M. R., Andersen L. B., Mitchell A. L., Gutmann D. H., Bogushi M., Collins F. S. cDNA cloning of the type 1 neurofibromatosis gene: complete sequence of the NF1 gene product. Genomics 1991; 11: 931–940
   PubMed Web of Science ®Google Scholar
• Marchuk D. A., Tavakkol R., Wallace M., Brownstein B., Taillon-Miller P., Fong C.-T., Legius E., Andersen L., Glover T., Collins F. S. A Yeast Artificial Chromosome contig encompassing the type 1 neurofibromatosis (NF1) gene. Genomics 1992; 13: 672–680
   Google Scholar
• Martin G. A., Viskochil D., Bollag G., McCabe P. C., Crosier W. J., Haubruck H., Conroy L., Clark R., O'Connell P., Cawthon R. M., Innis M. A., McCormick F. The GAP-related domain of the neurofibromatosis type 1 gene product interacts with ras p21. Cell 1990; 63: 843–849
   PubMed Web of Science ®Google Scholar
• Martin-Gallardo A., McCombie W. R., Gocayne J. D., Fitzgerald M. G., Wallace S., Lee B. M.B., Lamerdin J., Trapp S., Kelly J. M., Liu L.-I., Dubnick M., Johnston-Dow L. A., Kerlavage A. R., de Jong P., Carrano A., Fields C., Venter J. C. Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3. Nature Genetics, 1: 34–39, (?)
   Google Scholar
• McCombie W. R., Kirkness E., Fleming J. T., Kerlavage A. R., Lovannisci D. M., Martin-Gallardo A. The use of Exonuclease III deletions in automated DNA sequence. Methods: a companion to methods in Enzymology 1991; 3: 33–40
   Google Scholar
• Mitchell C. A., Labuda D., Fontaine S., Sauduray J. M., Bonne-font J. P., Lyonnet S., Brady L. C., Steel C., Obie C., Valle D. Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. Proc. Natl. Acad. Sci. USA 1991; 88: 815–819
   PubMed Web of Science ®Google Scholar
• Orita M., Suzuki Y., Sekiya T., Hayashi K. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction. Genomics 1989; 5: 874–879
   PubMed Web of Science ®Google Scholar
• Riccardi V. M., Eichner J. E. Neurofibromatosis: phenotype, natural history and pathogenesis. John Hopkins University Press, Baltimore 1986
   Google Scholar
• Sanger F., Nicklen S., Coulson A. R. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 1977; 74: 5463–5467
   PubMed Web of Science ®Google Scholar
• Schmidt M. A., Michels V. V., Dewald C. W. Cases of neurofibromatosis with rearrangements of chromosome 1 7 involving band 1 7q11.2. Am. J. Med. Genet 1987; 28: 771–777
   Google Scholar
• Viskochil D., Buchberg A. M., Xu G., Cawthon R. M., Stevens J., Wolff R. K., Culver M., Carey J. C., Copeland N. G., Jenkins N. A., White R., O'Connell P. Deletions and translocations interrupted a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 187–192
   PubMed Web of Science ®Google Scholar
• Wallace M. R., Marchuk D. A., Andersen L. B., Letcher R., Odeh H. M., Saulino A. M., Fountain J. W., Brereton A., Nicholson J., Mitchell A. L., Brownstein B. H., Collins F. S. Type 1 Neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990a; 249: 181–189
   PubMed Web of Science ®Google Scholar
• Wallace M. R., Andersen L. B., Fountain J. W., Odeh H. M., Viskochil D., Marchuk D. A., O'Connell P., White R., Collins F. S. A chromosome jump crosses a translocation breakpoint in the von Recklinghausen neurofibromatosis region. Genes, Chromosomes, and Cancer 1990b; 2: 271–277
   Google Scholar
• Wallace M. R., Andersen L. B., Saulino A. M., Gregory P. E., Glover T. W., Collins F. S. A de novo Alu insertion results in neurofibromatosis type 1. Nature 1991; 353: 864–866
   PubMedGoogle Scholar
• Yamakawa K., Takada K., Yanagi H., Tsuchiya S., Kawai K., Nakagawa S., Kajiyama G., Hamaguchi H. Three novel partial deletions of the low density lipoprotein (LDL) receptor gene in familial hypercholesterolemia. Hum. Genet. 1989; 82: 317–321
   PubMedGoogle Scholar
• Xu G., O'Connell P., Viskochil D., Cawthon R., Robertson M., Culver M., Dunn D., Stevens J., Gesteland R., White R., Weiss R. The neurofibromatosis type 1 gene encodes a protein related to GAP. Cell 1990; 62: 599–608
   PubMed Web of Science ®Google Scholar