Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

11p15.5 is an important tumor-suppressor gene region, showing loss of heterozygosity in Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian, and breast cancer. We previously mapped directly by genetic complementation a subtransferable fragment (STF) harboring an embryonal tumor-suppressor gene and spanning about 2.5 Mb. We have now mapped the centromeric end of this STF between D11S988 and D11S12 and its telomeric end between D11S1318 and TH. We have isolated a complete contig of PAC, P1, BAC, and cosmid genomic clones spanning the entire 2.5-Mb region defined by this STF, as well as more than 200 exons from these genomic clones using exon trapping. We have isolated genes in this region by directly screening DNA libraries as well as by database searching for ESTs. Nine of these genes have been reported previously by us and by others. However, the initial mapping of most of those genes was based on FISH or somatic cell hybrid analysis, and here we precisely define their physical location. These genes include RRM1, GOK (D11S4896E), Nup98, CARS, hNAP2 (NAP1L4), p57KIP2 (CDKN1C), KVLQT1 (KCNA9), TAPA-1, and ASCL2. In addition, we have identified several novel genes in this region, three of which, termed TSSC1, TSSC2, and TSSC3, are reported here. TSSC1 shows homology to Rb-associated protein p48 and chromatin assembly factor CAF1, and it is located between GOK and Nup98. TSSC2 is homologous to Caenorhabditis elegans beta-mannosyl transferase, and it lies between Nup98 and CARS. TSSC3 shows homology to mouse TDAG51, which is implicated in FasL-mediated apoptosis, and it is located between hNAP2 and p57KIP2. Thus, these genes may play a role in malignancies that involve this region.
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PMID:A 2.5-Mb transcript map of a tumor-suppressing subchromosomal transferable fragment from 11p15.5, and isolation and sequence analysis of three novel genes. 940 53

Chromosome band 11p15.5 has proven to be an intriguing area of the human genome. Various studies have linked alterations in this region to growth-related disorders such as Beckwith-Wiedemann syndrome and a variety of human cancers. Furthermore, functional assays in G401 Wilms tumor cells and RD rhabdomyosarcoma cells support the existence of a tumor suppressor gene on 11p15.5, sometimes called WT2. In addition, several genes mapping to this region show imprinted expression, suggesting that 11p15.5 contains an imprinted domain. We have employed solution hybrid capture in combination with sequence analysis to identify 16 genes within the approximately 700-kb critical region of 11p15.5 between D11S601 and D11S1318. Two of these genes, NAP1L4 and KCNA9, had been previously reported. Ten novel transcripts were identified with partial cDNA sequences selected by solution hybrid capture. Sequence homology to known ESTs was used to identify the remaining gene transcripts. Interestingly, the tissue-specific mRNA expression of these genes correlates with the tumor types linked to this region. This work can be compiled into a transcript map, important in the elucidation of tumor suppressor activity on chromosome 11p15.5.
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PMID:Novel transcribed sequences within the BWS/WT2 region in 11p15.5: tissue-specific expression correlates with cancer type. 944 38