| Autor: |
Lorenzi, Matthew V., Castagnino, Paola, Aaronson, Daniel C., Lieb, David C., Lee, Chong Chou, Keck, Catherine L., Popescu, Nicholas C., Miki, Toru |
| Zdroj: |
Genomics; November 1999, Vol. 62 Issue: 1 p59-66, 8p |
| Abstrakt: |
We have previously identified a chromosomal rearrangement between fibroblast growth factor receptor 2 (FGFR2) and a novel gene, FRAG1,in a rodent model of osteosarcoma. To assess the potential role of FRAG1in disease further, we have isolated cDNA and genomic clones of human FRAG1.Sequence analysis of the cDNA revealed the presence of an insertion not contained in the original FRAG1sequence. This insertion in human FRAG1encoded a region highly homologous to and immediately following the first 55 amino acids of the protein, indicating the presence of a repetitive domain within FRAG1, designated the FRAG1 homology (FH) domain. Analysis of FRAG1gene structure revealed that the FH domains were encoded by tandem duplicated exons. Database searches identified several transmembrane proteins displaying homology to the FH domain of FRAG1. In addition, hydropathy analysis predicted FRAG1to encode an integral membrane protein with multiple membrane-spanning segments. FRAG1mRNA was ubiquitously expressed in human adult tissues and several tumor cell lines at varying levels of abundance. Human FRAG1was mapped by fluorescence in situhybridization and radiation hybrid analysis to chromosome 11 at band p15.5, a region implicated in Beckwith–Wiedemann syndrome and a region of frequent loss of heterozygosity in multiple tumor types. These results suggest that FRAG1may be a useful candidate gene for genetic disorders associated with alterations at 11p15.5. |
| Databáze: |
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