Maris J M, Jensen S J, Sulman E P, Beltinger C P, Gates K, Allen C, Biegel J A, Brodeur G M, White P S
Division of Oncology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.
Genomics. 1996 Jul 15;35(2):289-98. doi: 10.1006/geno.1996.0359.
The Krüppel-type zinc finger proteins are members of a conserved family of transcription factors that are important in developmental regulation. Altered expression of several of these proteins has been implicated in human diseases, including cancer. We report the cloning, mapping, and characterization of the zinc finger gene Human Krüppel-Related 3 (HKR3). Genomic clones of HKR3 were isolated from a P1 library and localized to human chromosome subband 1p36.3 by human-rodent somatic cell hybrid mapping and fluorescence in situ hybridization. The gene was physically mapped to within 40 kb of D1S214 by YAC content and long-range restriction mapping. HKR3 spans 9.5 kb of genomic DNA and is contained in 11 exons. Sequencing defined each of the exon/intron splice site junctions and identified a CpG island in the 5' region of the gene. HKR3 is ubiquitously expressed in human tissues as at least two major transcripts, the shorter of which excludes a conserved finger-associated box and a putative acidic activation domain contained in the full-length transcript. HKR3 is a novel zinc finger gene that maps to a region of the genome commonly rearranged or deleted in human cancers.
克鲁ppel型锌指蛋白是一个保守的转录因子家族成员，在发育调控中起重要作用。这些蛋白中几种的表达改变与包括癌症在内的人类疾病有关。我们报告了锌指基因人类克鲁ppel相关3（HKR3）的克隆、定位和特征分析。HKR3的基因组克隆从一个P1文库中分离出来，并通过人-鼠体细胞杂交定位和荧光原位杂交定位到人类染色体亚带1p36.3。通过YAC含量和长距离限制性图谱分析，该基因在物理上定位到D1S214的40kb范围内。HKR3跨越9.5kb的基因组DNA，包含在11个外显子中。测序确定了每个外显子/内含子剪接位点连接，并在基因的5'区域鉴定出一个CpG岛。HKR3在人类组织中普遍表达为至少两种主要转录本，其中较短的转录本排除了一个保守的指相关框和全长转录本中包含的一个假定的酸性激活域。HKR3是一个新的锌指基因，定位于人类癌症中常见重排或缺失的基因组区域。
