Journal ArticleDOI
Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients
Margaret R. Wallace,Douglas A. Marchuk,Lone B. Andersen,Roxanne Letcher,Hana Odeh,Ann M. Saulino,Jane W. Fountain,Anne Brereton,Jane M. Nicholson,Anna L. Mitchell,Bernard H. Brownstein,Francis S. Collins +11 more
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TLDR
The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations, suggesting that NF1 LT represents the elusive NF1 gene.Abstract:
Von Recklinghausen neurofibromatosis (NF1) is a common autosomal dominant disorder characterized by abnormalities in multiple tissues derived from the neural crest. No reliable cellular phenotypic marker has been identified, which has hampered direct efforts to identify the gene. The chromosome location of the NF1 gene has been previously mapped genetically to 17q11.2, and data from two NF1 patients with balanced translocations in this region have further narrowed the candidate interval. The use of chromosome jumping and yeast artificial chromosome technology has now led to the identification of a large (approximately 13 kilobases) ubiquitously expressed transcript (denoted NF1LT) from this region that is definitely interrupted by one and most likely by both translocations. Previously identified candidate genes, which failed to show abnormalities in NF1 patients, are apparently located within introns of NF1LT, on the antisense strand. A new mutation patient with NF1 has been identified with a de novo 0.5-kilobase insertion in the NF1LT gene. These observations, together with the high spontaneous mutation rate of NF1 (which is consistent with a large locus), suggest that NF1LT represents the elusive NF1 gene.read more
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Journal ArticleDOI
Identification of the von Hippel-Lindau disease tumor suppressor gene.
Farida Latif,K. Tory,James R. Gnarra,M Yao,Fuh Mei Duh,M L Orcutt,Thomas Stackhouse,Igor Kuzmin,William S. Modi,L Geil +9 more
TL;DR: A gene discovered by positional cloning has been identified as the von Hippel-Lindau (VHL) disease tumor suppressor gene, and a restriction fragment encompassing the gene showed rearrangements in 28 of 221 VHL kindreds.
Journal ArticleDOI
Identification of FAP locus genes from chromosome 5q21
Kenneth W. Kinzler,Mef Nilbert,Li Kuo Su,Bert Vogelstein,Tracy M. Bryan,Daniel B. Levy,Kelly J. Smith,Antonette C. Preisinger,Hedge Philip John,Douglas McKechnie,Rachel Finniear,Alex Markham,John Groffen,Mark S. Boguski,Stephen F. Altschul,Akira Horii,Hiroshi Ando,Yasuo Miyoshi,Yoshio Miki,Isamu Nishisho,Yusuke Nakamura +20 more
TL;DR: The APC gene was identified in a contig initiated from the MCC gene and was found to encode an unusually large protein, and these two closely spaced genes encode proteins predicted to contain coiled-coil regions, which were also expressed in a wide variety of tissues.
Journal ArticleDOI
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
Fredrick S. Leach,Nicholas C. Nicolaides,Nickolas Papadopoulos,Bo Liu,Jin Jen,Ramon Parsons,Päivi Peltomäki,Pertti Sistonen,Lauri A. Aaltonen,Minna Nyström-Lahti,Xin Yuan Guan,Ji Zhang,Paul S. Meltzer,Jing Wei Yu,Fa Ten Kao,David J. Chen,Karen M. Cerosaletti,R. E. Keith Fournier,Sean Todd,Tracey B. Lewis,Robin J. Leach,Susan L. Naylor,Jean Weissenbach,Jukka-Pekka Mecklin,Heikki Järvinen,Gloria M. Petersen,Stanley R. Hamilton,Jane Green,Jeremy R. Jass,Patrice Watson,Henry T. Lynch,Jeffrey M. Trent,Albert de la Chapelle,Kenneth W. Kinzler,Bert Vogelstein +34 more
TL;DR: Somatic as well as germline mutations of the gene were identified in RER+ tumor cells, and this mutS homolog is likely to be responsible for HNPCC.
Journal ArticleDOI
RAS oncogenes: the first 30 years
TL;DR: The knowledge that has accumulated since their discovery 30 years ago has been remarkable, and should pave the way for not only solving the outstanding issues regarding RAS biology, but also for developing efficacious drugs that could have a significant impact on cancer treatment.
Journal ArticleDOI
Molecular themes in oncogenesis
TL;DR: It seems likely that most malignancies arise from the collaborative effects of dominant and recessive lesions, andumeration of the number of tumor suppressor genes afflicted in any given tumor may be greater.
References
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A simple method for displaying the hydropathic character of a protein
Jack Kyte,Russell F. Doolittle +1 more
TL;DR: A computer program that progressively evaluates the hydrophilicity and hydrophobicity of a protein along its amino acid sequence has been devised and its simplicity and its graphic nature make it a very useful tool for the evaluation of protein structures.
Journal ArticleDOI
Identification of the cystic fibrosis gene: genetic analysis.
Batsheva Kerem,Johanna M. Rommens,Janet A. Buchanan,Danuta Markiewicz,Tara K. Cox,Aravinda Chakravarti,Manuel Buchwald,Lap-Chee Tsui +7 more
TL;DR: Extended haplotype data based on DNA markers closely linked to the putative disease gene locus suggest that the remainder of the cystic fibrosis mutant gene pool consists of multiple, different mutations.
Journal ArticleDOI
CpG-rich islands and the function of DNA methylation
TL;DR: It is likely that most vertebrate genes are associated with ‘HTF islands’—DNA sequences in which CpG is abundant and non-methylated; however, highly tissue-specific genes, though, usually lack islands.
Journal ArticleDOI
Identification of the cystic fibrosis gene: Chromosome walking and jumping
Johanna M. Rommens,Michael C. Iannuzzi,Batsheva Kerem,Mitchell L. Drumm,Georg Melmer,Michael Dean,Richard Rozmahel,Jeffery L. Cole,Dara Kennedy,Noriko Hidaka,Martha Zsiga,Manuel Buchwald,John R. Riordan,Lap-Chee Tsui,Francis S. Collins +14 more
TL;DR: Several transcribed sequences and conserved segments were identified in this cloned region and one corresponds to the cystic fibrosis gene and spans approximately 250,000 base pairs of genomic DNA.
Journal ArticleDOI
A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
Stephen H. Friend,Stephen H. Friend,René Bernards,Snezna Rogelj,Robert A. Weinberg,Joyce M. Rapaport,Daniel M. Albert,Thaddeus P. Dryja +7 more
TL;DR: The isolation of a complementary DNA segment that detects a chromosomal segment having the properties of the gene at this locus is described, which is expressed in many tumour types, but no RNA transcript has been found in retinoblastomas and osteosarcomas.