Petit M M, Schoenmakers E F, Huysmans C, Geurts J M, Mandahl N, Van de Ven W J
Laboratory for Molecular Oncology, Center for Human Genetics, University of Leuven and Flanders Interuniversity Institute of Biotechnology, Herestraat 49, Leuven, B-3000, Belgium.
Genomics. 1999 May 1;57(3):438-41. doi: 10.1006/geno.1999.5778.
A major cytogenetic subgroup among human lipomas is characterized by translocations involving the HMGIC gene at 12q15. In the context of an ongoing research program aiming at the elucidation of the functional consequences of HMGIC translocations in the etiology of lipomas, we have isolated a novel human gene, LHFP (lipoma HMGIC fusion partner), that acts as a translocation partner of HMGIC in a lipoma with t(12;13). The LHFP gene was mapped to the long arm of chromosome 13, a region recurrently targeted by chromosomal aberrations in lipomas. By Northern blot analysis, a transcript of 2. 4 kb was detected in a variety of human tissues. We assembled a cDNA contig containing the entire coding region of LHFP. Nucleotide sequence analysis of the composite LHFP cDNA revealed an open reading frame encoding a protein of 200 amino acids. The predicted human LHFP protein is almost identical to a translated mouse EST that covers almost the entire LHFP coding region. In addition, BLAST searches revealed that the LHFP protein belongs to a new protein family consisting of at least four or five members. In the lipoma studied, the expressed HMGIC/LHFP fusion transcript encodes the three DNA binding domains of HMGIC followed by 69 amino acids encoded by frame-shifted LHFP sequences. LHFP is the second translocation partner of HMGIC identified in lipomas and represents a candidate target gene for lipomas with 13q aberrations.
人类脂肪瘤中的一个主要细胞遗传学亚组的特征是涉及位于12q15的HMGIC基因的易位。在一项正在进行的旨在阐明HMGIC易位在脂肪瘤病因学中的功能后果的研究计划中，我们分离出了一个新的人类基因LHFP（脂肪瘤HMGIC融合伴侣），它在一个具有t(12;13)的脂肪瘤中作为HMGIC的易位伴侣。LHFP基因被定位到13号染色体的长臂上，该区域是脂肪瘤中染色体畸变经常靶向的区域。通过Northern印迹分析，在多种人类组织中检测到一个2.4kb的转录本。我们组装了一个包含LHFP整个编码区的cDNA重叠群。对复合LHFP cDNA的核苷酸序列分析揭示了一个编码200个氨基酸的蛋白质的开放阅读框。预测的人类LHFP蛋白与一个几乎覆盖整个LHFP编码区的翻译后的小鼠EST几乎相同。此外，BLAST搜索显示LHFP蛋白属于一个由至少四到五个成员组成的新蛋白家族。在所研究的脂肪瘤中，表达的HMGIC/LHFP融合转录本编码HMGIC的三个DNA结合结构域，随后是由移码的LHFP序列编码的69个氨基酸。LHFP是在脂肪瘤中鉴定出的HMGIC的第二个易位伴侣，代表了具有13q畸变的脂肪瘤的候选靶基因。
