Dads and disomy and disease
Article Abstract:
The development of Beckwith-Wiedemann syndrome (BWS), a fetal overgrowth syndrome in humans, is associated with the inheritance of two copies of a region on chromosome 11 from the father. Although there are many clinical forms of BWS, symptoms include gigantism and low levels of blood sugar. One copy of a gene is usually inherited from the mother and one from the father. The inheritance of two copies of genetic information from the father is unusual and is called paternal disomy and maternal deficiency. Studies in mice show that the gene for insulin-like growth factor-2 (Igf2) is located in this chromosomal region. Other genes have been identified in this region, including genes involved in other embryonic cancers, such as Wilms' tumor (tumor of the kidneys), hepatoblastoma (tumor of the liver) and rhabdomyosarcoma (tumor of muscles). These types of tumors occur in 12.5 percent of patients with BWS and are associated with a loss of maternal genetic information; this suggests that the lost gene suppresses tumor development. Therefore, the abnormalities in BWS are the result of multiple genetic changes, caused by the abnormal inheritance of genetic information from one parent. This theory also explains why so many clinical forms of BWS are seen. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1991
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WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour
Article Abstract:
An investigation was carried out of the genetic abnormalities associated with Wilms' tumor, a kidney tumor. This condition is associated with anatomic abnormalities of the genitourinary tract and mental retardation. A tumor suppressor gene for WT has been identified and named WT1; this gene is expressed in certain regions of the kidney, in the developing gonad, and in the testis and ovary. It is possible that WT1 plays a role in the development of the genital system. This was explored by examining the DNA from two patients with Wilms' tumor using the polymerase chain reaction technique, which allows amplification of small amounts of DNA. Both patients had abnormalities of the genital tract in addition to their tumors. In one case, a deletion of 17 base pairs in the WT1 gene was noted; in the other, deletion of a single base was seen. The results suggest a role for WT1 in normal human sexual development, and that its inactivation may be associated with genital malformations that are distinct from Wilms' tumor. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Nature
Subject: Zoology and wildlife conservation
ISSN: 0028-0836
Year: 1991
User Contributions:
Comment about this article or add new information about this topic:
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