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Human Genome News Archive Edition

Human Genome News, March 1993; 4(6)

Researchers Discover Gene Involved in Two Diseases

Researchers led by Beverly Emanuel at Children's Hospital of Philadelphia (CHOP) have shown for the first time that different alterations in a single human gene can cause two unrelated types of human disease. Alterations in PAX3, a gene found on chromosome 2, are responsible for the congenital deafness known as Waardenburg syndrome and for alveolar rhabdomyosarcoma, a relatively rare and often lethal soft-tissue tumor that most frequently affects teenagers. The study was published in the February issue of Nature Genetics.

CHOP investigators found that a new hybrid gene is produced when portions of PAX3 and another gene on chromosome 13 are exchanged. This hybrid gene is believed to produce the protein responsible for causing alveolar rhabdomyosarcoma. In Waardenburg syndrome, a mutation probably prevents PAX3 from producing its normal protein.

Understanding the genetic cause of alveolar rhabdomyosarcoma has three important implications, said Frederick Barr (CHOP):

  • Scientists will be able to study how the abnormal fusion gene causes cancer.
  • The distinctive fused gene provides an unmistakable fingerprint that doctors can use to diagnose the cancer and determine the extent of metastasis and the effectiveness of therapy.
  • The protein produced by the fused gene is unique to the cancer cells, a difference that may lead to new cancer treatments.

Alveolar rhabdomyosarcoma is a particularly invasive cancer that affects the trunk and limbs; 1 in 100,000 preteens and teenagers are diagnosed each year. According to Richard Womer (CHOP), the cancer invades surrounding tissue and often spreads to distant parts of the body before the first symptom-a lump-appears. An aggressive combination of five chemotherapeutic drugs, white cell growth factors, radiation, and surgery is used to fight the cancer. Womer stated that translating this molecular advance into diagnostic probes will greatly facilitate the diagnosis, staging, and treatment of affected children.

Emanuel said, "This research finding is yet another example of the importance of the Human Genome Project. It was information derived from the maps of human and mouse chromosomes that made this discovery possible." Other researchers who worked on this study include Jaclyn Biegel and John Holick of CHOP and Naomi Galili and Giovanni Rovera of the Wistar Institute.


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Human Genome Program, U.S. Department of Energy, Human Genome News (v4n6).

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Human Genome News

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.