Cloning and characterization of three human forkhead genes that comprise an FKHR-like gene subfamily
Cloning and characterization of three human forkhead genes that comprise an FKHR-like gene subfamily
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DOI：
10.1006/geno.1997.5122
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发表时间：
1998-01-15
期刊：
影响因子：
4.4
通讯作者：
Arden, KC
中科院分区：
文献类型：
--
作者：
Anderson, MJ;Viars, CS;Arden, KC
腺泡型横纹肌肉瘤与独特的染色体易位t（2;13）和t（1;13）相关，这两种易位分别由配对盒蛋白PAX 3和PAX 7的基因与染色体13 q14上的FKHR（横纹肌肉瘤中的叉头）基因融合引起。在这里，我们报告了三个新的人类forkhead基因与FKHR相似的鉴定和表征。这三个基因（HGMW批准的符号FKHRP 1，FKHRL 1和FKHRL 1 P1）分别定位于染色体区域5q35.2-q35.3，6 q21和17 p11。基于其叉头结构域的氨基酸序列比较，FKHRL 1、FKHRL 1 P1和FKHRP 1与FKHR分别具有86%、84%和68%的同一性。虽然FKHR和FKHRL 1在所检查的每个成人组织中表达，但不能检测到FKHRP 1 mRNA表达，并且FKHRL 1 P1仅以低水平表达。FKHR和FKHRL 1具有相似的基因组结构，各自具有非常大的内含子1（FKHR类似于130 kb，而FKHRL 1>90 kb），其在相同位置将它们各自的叉头结构域一分为二，以及在每个终止密码子的下游的第二个内含子。FKHRP 1和FKHRL 1 P1缺乏内含子，并含有阻止它们产生全长蛋白质的终止密码子。因此，虽然FKHR和FKHRL 1代表功能基因，但FKHRP 1和FKHRL 1 P1可能是加工假基因。这些结果表明，这四个基因代表了一个FI（HR样基因亚家族内较大的人类叉头基因家族。(C)北京：科学出版社.
Alveolar rhabdomyosarcomas are associated with unique chromosomal translocations t(2;13) and t(1;13), which arise from fusion of the genes for the paired box proteins PAX3 and PAX7, respectively, to the FKHR (forkhead in rhabdomyosarcoma) gene on chromosome 13q14. Here we report the identification and characterization of three novel human forkhead genes with similarity to FKHR. The three genes (HGMW-approved symbols FKHRP1, FKHRL1, and FKHRL1P1) map to chromosomal regions 5q35.2-q35.3, 6q21, and 17p11, respectively. Based on amino acid sequence comparisons of their forkhead domains, FKHRL1, FKHRL1P1, and FKHRP1 share 86, 84, and 68% identity, respectively, with FKHR. While FKHR and FKHRL1 are expressed in every human adult tissue examined, FKHRP1 mRNA expression could not be detected, and FKHRL1P1 expression was present only at low levels. FKHR and FKHRL1 share a similar genomic organization, each having a very large intron 1 (FKHR similar to 130 kb and FKHRL1 >90 kb), which bisects their respective forkhead domains at identical positions, as well as a second intron just downstream of each stop codon. FKHRP1 and FKHRL1P1 lack introns and contain stop codons that prevent them from yielding full-length proteins. Thus, while FKHR and FKHRL1 represent functional genes, FKHRP1 and FKHRL1P1 probably are processed pseudogenes. These results suggest that these four genes represent an FI(HR-like gene subfamily within the larger human forkhead gene family. (C) 1998 Academic Press.