EVOLUTION AND ORGANIZATION OF THE FIBRINOGEN LOCUS ON CHROMOSOME-4 - GENE DUPLICATION ACCOMPANIED BY TRANSPOSITION AND INVERSION
EVOLUTION AND ORGANIZATION OF THE FIBRINOGEN LOCUS ON CHROMOSOME-4 - GENE DUPLICATION ACCOMPANIED BY TRANSPOSITION AND INVERSION
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DOI：
10.1073/pnas.82.8.2344
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发表时间：
1985-01-01
影响因子：
11.1
通讯作者：
CRABTREE, GR
中科院分区：
文献类型：
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作者：
KANT, JA;FORNACE, AJ;CRABTREE, GR
人纤维蛋白原cDNA [互补DNA]探针，β-的和γ-使用多肽链从人基因组文库中分离相应的基因。每个基因都有一个拷贝。分离的基因组克隆和人基因组DNA的限制性内切酶分析表明，β-，和γ-纤维蛋白原基因在单个人染色体的50-羟化酶区域中紧密连锁：α-羟化酶区域基因在中间，两侧是β-基因在一边，γ-基因在另一边。α-和γ-链基因是串联定向的，并朝β-链基因β-链基因从相反的DNA链向γ-链转录。和α-连锁基因通过与纤维蛋白原cDNA的原位杂交以及对多个啮齿动物-人类体细胞杂交体的DNA的检查，将这3个基因定位于第4号染色体长臂的远端第3位，q23-q32带。对3种纤维蛋白原基因的本发明排列的替代解释涉及具有α/β倒位的3步机制。伽马区域或涉及远程换位和反转的2步机制。第二个更简单的机制在纤维蛋白原和IG基因的重复区域的起源中有先例。
Human fibrinogen cDNA [complementary DNA] probes for the .alpha.-, .beta.- and .gamma.-polypeptide chains were used to isolate the corresponding genes from human genomic libraries. There is a single copy of each gene. Restriction endonuclease analysis of isolated genomic clones and human genomic DNA indicates that the human .alpha.-, .beta.-, and .gamma.-fibrinogen genes are closely linked in a 50-kilobase region of a single human chromosome: the .alpha.-gene in the middle flanked by the .beta.-gene on one side and the .gamma.-gene on the other. The .alpha.- and .gamma.-chain genes are oriented in tandem and transcribed toward the .beta.-chain gene. The .beta.-chain gene is transcribed from the opposite DNA strand toward the .gamma.- and .alpha.-chain genes. The 3 genes were localized to the distal 3rd of the long arm of chromosome 4, bands q23-q32, by in situ hybridization with fibrinogen cDNA and by examination of DNA from multiple rodent-human somatic cell hybrids. Alternative explanations of the present arrangement of the 3 fibrinogen genes involve either a 3-step mechanism with inversion of the .alpha./.gamma.-region or a 2-step mechanism involving remote transposition and inversion. The 2nd more simple mechanism has a precedent in the origin of repeated regions of the fibrinogen and Ig genes.