Tissue, developmental, and tumor-specific expression of divergent transcripts in Wilms tumor

Article Abstract:

Wilms tumor (WT, also called nephroblastoma) is an inherited malignancy of the kidney, usually occurring in children. The genetic loci implicated in the development of Wilms tumor have been identified; at least three are known. Experiments were performed to learn more regarding the biological properties of two transcripts (base sequences) that appear involved in WT, WIT-1 and WIT-2. These are expressed only in kidney and spleen; each corresponds to a particular histopathologic type of WT. Both are found in high concentrations in the fetal kidney, and in much lower concentrations in kidneys from children and adults. Tumors from 32 cases of WT expressed WIT-1 and WIT-2 differently; 16 contained no sign of WIT-1, and 11 contained no WIT-2. When WIT-2 was present in large concentrations, WIT-1 was also found; however, when WIT-2 was absent or present in only small concentrations, WIT-1 was also absent. These and other results imply that regulation of the two transcripts is coordinated during development and during development of WT. The mechanisms that could result in aberrant transcription are described. (Consumer Summary produced by Reliance Medical Information, Inc.)

Gene expression

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A mouse model of the aniridia-Wilms tumor deletion syndrome

Article Abstract:

In man, the deletion, or loss, of a portion of chromosome 11 known as 11p13 results in the WAGR syndrome. The WAGR syndrome consists of Wilms tumor (a tumor of the kidneys), aniridia (absence or malformation of the iris of the eye), malformations of the genitourinary tract, and mental retardation. Through genetic breeding, the chromosomal region where the defect lies was localized in the mouse, which can now serve as an animal model for this syndrome. In mice, the deletion in this chromosomal area is called the small-eye defect and results in aniridia. Although this chromosomal area is also involved in susceptibility to Wilms tumor in man, these mice do not develop Wilms tumor or the genitourinary abnormalities. The availability of these mice for study will allow for further understanding of the genetic defect in WAGR syndrome and of how tumors develop and will also provide insights into the embryonic development of the eye and face. (Consumer Summary produced by Reliance Medical Information, Inc.)

Models, Causes of, Eye diseases, Chromosome abnormalities, Tumors, Embryonal, Embryonal tumors, Aniridia

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Wilms tumor locus on 11p13 defined by multiple CpG island-associated transcripts

Article Abstract:

The characteristics of the chromosomal region implicated in Wilms tumor (WT, a kidney malignancy, usually present in children) were investigated in a series of experiments using a technique (yeast artificial chromosome cloning) that generates a DNA map of the region. Tumor tissue was used to construct a map containing the deleted region implicated in WT and the base sequence of the region and other properties were then determined. Several genes from the region associated with WAGR syndrome (WT, failure of the iris to develop, abnormal development of the genitourinary system, and mental retardation) were identified. One 850-kilobase sequence was cloned, and cloning of other suspect genes should be possible with the method described. The chemical structures (methylation) of some regions of 11p13 (the area of chromosome 11 studied) provide evidence regarding the way the gene is regulated in development. (Consumer Summary produced by Reliance Medical Information, Inc.)

Methods, Chromosome mapping

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