Sato T, Sakamoto T, Takita K, Saito H, Okui K, Nakamura Y
Department of Biochemistry, Cancer Institute, Tokyo, Japan.
Genomics. 1993 Sep;17(3):762-4. doi: 10.1006/geno.1993.1402.
Five cosmid clones, isolated by procedures to screen genomic libraries for homologous variants of the human prohibitin gene (PHB), were analyzed to determine their genomic structures. Four of these (PHBP1-4) were found to be processed pseudogenes, each located on a different chromosome from their counterparts on chromosome 17q21. The DNA sequence of one clone (PHBP1, on chromosome 6q25) shared a 91.3% identity at the nucleotide level with the cDNA of functional prohibitin. A large number of human tumors of the breast, ovary, liver, and lung were examined for somatic mutations in the PHB gene. Although mutations were observed in a few sporadic breast cancers, none were identified in any of the other cancers.
通过筛选人类抑制素基因（PHB）同源变体的基因组文库的程序分离出五个黏粒克隆，并对其进行分析以确定它们的基因组结构。发现其中四个（PHBP1 - 4）是加工假基因，每个都位于与17q21染色体上对应基因不同的染色体上。一个克隆（位于6q25染色体上的PHBP1）的DNA序列与功能性抑制素的cDNA在核苷酸水平上具有91.3%的同一性。对大量人类乳腺癌、卵巢癌、肝癌和肺癌进行了PHB基因体细胞突变检测。虽然在少数散发性乳腺癌中观察到了突变，但在其他任何癌症中均未发现。
