Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

Article Abstract:

Neurofibromatosis type 1 (NF1), or von Recklinghausen's disease, is a common hereditary disorder which affects several tissues that develop from the embryonic neural crest. The disease occurs in about 1 in 3,000 individuals, regardless of ethnic group, making it one of the most common genetically dominant disorders found in humans. Although the gene for this disease has been mapped to chromosome 17, more specifically 17q11.2, further progress in identifying the gene has been hampered by the absence of markers that could indicate which pieces of DNA contain the gene and are therefore suitable for molecular cloning. The identification of two patients who have a chromosomal translocation in the neighborhood of the NF1 gene has now permitted a much closer mapping of the elusive gene, which may lead to the cloning of the gene itself. A large transcript of DNA was cloned into yeast, and comparison has shown that in at least one of the two patients, the translocation is certainly located with the large transcript, and that in the other patient it is likely to be. The large transcript, which has been dubbed the neurofibromatosis type 1 large transcript, or NF1LT, was compared with the DNA of another new patient, who represents a new occurrence of the NF1 mutation. It was found that this patient with the new mutation had 500 DNA bases inserted into the NF1LT. This insertion suggests that NF1LT may, in fact, be the elusive neurofibromatosis gene. This interpretation is strengthened by the observation that some genes which had previously been suspected to be the NF1 gene, but which were abandoned after having been found to be normal in some patients, are actually located within the NF1 large fragment described in this study. (Consumer Summary produced by Reliance Medical Information, Inc.)

Genetic aspects, Genetic disorders, Neurofibromatosis

---

Tough times ahead for the genome project

Article Abstract:

The human genome project, which plans to determine the DNA sequencing of the entire set of human genes, is coming under considerable criticism after enjoying a period of great popularity. Some scientists feel that in an era of tightening research funding, spending $108 million in 1991 for this project is unjustified. It is clear that many researchers feel that this major project will be controlled by a few large centers at the expense of many small laboratories around the country which must struggle to survive. Other researchers are taking a middle ground position, stating that while the goals of the project are worthy, there is no reason to engage in a 'crash program' to sequence the genome. Still other researchers point out the rather mediocre intellectual challenge of the project, which provides more opportunity for 'mind-numbing' laboratory benchwork than for creative thought, and would provide poor training for younger scientists. Nevertheless, supporters of the project, who hope to rapidly scale up to a $200 million per year budget, are lobbying members of Congress for support. Francis Collins, a cystic fibrosis researcher and key player in the genome project, expressed surprise and frustration at the developing hostility from other researchers and the hesitancy of Congress. (Consumer Summary produced by Reliance Medical Information, Inc.)

Economic aspects, Laws, regulations and rules, Human Genome Project, Chromosome mapping, Linkage (Genetics), editorial

---

Similar abstracts:

• Abstracts: Down to the wire for the NF gene. New game plan for genome mapping. A common language for physical mapping of the human genome
• Abstracts: Zeroing in on individual cancer risk. Genetic defect identified in rare cancer syndrome. Oncogenes evoke new cancer therapies
• Abstracts: Seventh AIDS conference: mostly ''fine tuning''. AIDS conference in Berlin offers plenty of hidden gems. Will AIDS conference migrate?
• Abstracts: T cell reactivity to MHC molecules: immunity versus tolerance. Clonal deletion versus clonal anergy: the role of the thymus in inducing self tolerance
• Abstracts: The tide of memory, turning. Dendrites shed their dull image

This website is not affiliated with document authors or copyright owners. This page is provided for informational purposes only. Unintentional errors are possible.