Gessler M, König A, Bruns G A
Institut für Humangenetik, Philipps Universität, Marburg, Germany.
Genomics. 1992 Apr;12(4):807-13. doi: 10.1016/0888-7543(92)90313-h.
The Wilms tumor gene WT1, a proposed tumor suppressor gene, has been identified based on its location within a homozygous deletion found in tumor tissue. The gene encodes a putative transcription factor containing a Cys/His zinc finger domain. The critical homozygous deletions, however, are rarely seen, suggesting that in many cases the gene may be inactivated by more subtle alterations. To facilitate the search for smaller deletions and point mutations we have established the genomic organization of the WT1 gene and have determined the sequence of all 10 exons and flanking intron DNA. The pattern of alternative splicing in two regions has been characterized in detail. These results will form the basis for future studies of mutant alleles at this locus.
威尔姆斯瘤基因WT1是一种推测的肿瘤抑制基因，它是根据其在肿瘤组织中发现的纯合缺失区域内的位置而被鉴定出来的。该基因编码一种含有Cys/His锌指结构域的假定转录因子。然而，关键的纯合缺失很少见，这表明在许多情况下该基因可能通过更细微的改变而失活。为了便于寻找更小的缺失和点突变，我们已经确定了WT1基因的基因组结构，并测定了所有10个外显子和侧翼内含子DNA的序列。详细描述了两个区域的可变剪接模式。这些结果将为该位点突变等位基因的未来研究奠定基础。
