回文序列诱导突变的机制及人类相关疾病

doi:10.3724/SP.J.1005.2013.00571

[an error occurred while processing this directive]

HEREDITAS ›› 2013, Vol. 35 ›› Issue (5): 571-577.doi: 10.3724/SP.J.1005.2013.00571

• en • Previous Articles Next Articles

The mechanisms of palindrome-stimulated mutation and related human diseases

CHEN Xu^{1, 3}, XIAO Fei², GUO Jian²

1. National Center for Clinical Laboratories, Beijing Hospital, Beijing 100730, China 2. Beijing Institute of Geriatrics, Ministry of Health, Beijing 100730, China 3. Graduate School, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China

Received:2012-09-26 Revised:2012-11-29 Online:2013-05-20 Published:2013-05-25

Abstract

Abstract: In prokaryotic and eukaryotic genomes, the palindrome regions are highly variable and instable. The reason for this instability is that palindrome can form a hairpin or cruciform structure, which can result in deletions or chromosomal translocations by certain mechanisms, such as slipped mispairing, single-strand annealing and non-homologous end joining. In human genomes, palindromes commonly exist in the essential elements which can regulate the expressions of different genes, and the mutations stimulated by palindromes are also closely associated with the occurrences and progressions of certain human diseases such as male infertility and thalassemia. Based on recent studies, we briefly summarize the types of mutations caused by palindromes and their possible mechanisms, as well as the related human diseases. This review would provide some information for the following researches about the roles and functions of palindromes in gene expression, regulation, mutation and related human diseases.

Key words: palindrome, deletion, translocation, slipped mispairing, single-strand annealing, non-homologous end joining (NHEJ)

References

[1] Turner AG, Dwivedi PP, Anderson PH, May BK, Morris HA. Regulation of the 5'-flanking region of the human CYP27B1 gene in osteoblast cells. Mol Cell Endocrinol, 2009, 311(1-2): 55-61.
[2] Wang HG, Wang XF, Jing XY, Li Z, Zhang Y, Lv ZJ. Effect of mutations in a simian virus 40 PolyA signal enhancer on green fluorescent protein reporter gene expression. Genet Mol Res, 2011, 10(3): 1866-1883.
[3] Shen P, Niu G, Yao M H, Wang H Y, Fei J. Studying on the 19-bp palindrome repeats in human cytomegalovirus im-mediate early enhancer/promoter reveals their diversity in function for the promoter activity. J Biochem, 2007, 142(1): 25-31.
[4] Leach DRF. Long DNA palindromes, cruciform structures, genetic instability and secondary structure repair. Bioessays, 1994, 16(12): 893-900.
[5] Kato T, Kurahashi H, Emanuel BS. Chromosomal trans-locations and palindromic AT-rich repeats. Curr Opin Genet Dev, 2012, 22(3): 221-228.
[6] Sinden RR, Zheng GX, Brankamp RG, Allen KN. On the deletion of inverted repeated DNA in Escherichia coli: effects of length, thermal stability, and cruciform formation in vivo. Genetics, 1991, 129(4): 991-1005.
[7] Weston-Hafer K, Berg DE. Limits to the role of palin-dromy in deletion formation. J Bacteriol, 1991, 173(1): 315-318.
[8] Kato T, Inagaki H, Kogo H, Ohye T, Yamada K, Emanuel BS, Kurahashi H. Two different forms of palindrome resolution in the human genome: deletion or translocation. Hum Mol Genet, 2008, 17(8): 1184-1191.
[9] Tanaka H, Cao Y, Bergstrom DA, Kooperberg C, Tapscott SJ, Yao MC. Intrastrand annealing leads to the formation of a large DNA palindrome and determines the boundaries of genomic amplification in human cancer. Mol Cell Biol, 2007, 27(6): 1993-2002.
[10] Bzymek M, Lovett ST. Evidence for two mechanisms of palindrome-stimulated deletion in Escherichia coli: single-strand annealing and replication slipped mispairing. Genetics, 2001, 158(2): 527-540.
[11] Pinder DJ, Blake CE, Lindsey JC, Leach DR. Replication strand preference for deletions associated with DNA pal-indromes. Mol Microbiol, 1998, 28(4): 719-727.
[12] Connelly JC, De Leau ES, Leach DRF. DNA cleavage and degradation by the SbcCD protein complex from Escherichia coli. Nucl Acids Res, 1999, 27(4): 1039-1046.
[13] Cromie GA, Leach DR. Control of crossing over. Mol Cell, 2000, 6(4): 815-826.
[14] Kurahashi H, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet, 2010, 78(4): 299-309.
[15] Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE. AT-rich palindromes mediate the constitutional t(11;22) translocation. Am J Hum Genet, 2001, 68(1): 1-13.
[16] Kurahashi H, Inagaki H, Kato T, Hosoba E, Kogo H, Ohye T, Tsutsumi M, Bolor H, Tong MQ, Emanuel BS. Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells. Hum Mol Genet, 2009, 18(18): 3397-3406.
[17] Kurahashi H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. Palindrome-mediated chromosomal translo-cations in humans. DNA Repair, 2006, 5(9-10): 1136-1145.
[18] Inagaki H, Ohye T, Kogo H, Yamada K, Kowa H, Shaikh TH, Emanuel BS, Kurahashi H. Palindromic AT-rich re-peat in the NF1 gene is hypervariable in humans and evo-lutionarily conserved in primates. Hum Mutat, 2005, 26(4): 332-342.
[19] Gotter AL, Nimmakayalu MA, Jalali GR, Hacker AM, Vorstman J, Conforto Duffy D, Medne L, Emanuel BS. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. Genome Res, 2007, 17(4): 470-481.
[20] Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong MQ, Macville MV, Medne L, Zack

Metrics

Comments

www.chinagene.cn
备案号：京ICP备09063187号

The mechanisms of palindrome-stimulated mutation and related human diseases

PDF (PC)

Knowledge

Abstract

Cite this article

share this article

References

Related Articles 15

Recommended Articles

Metrics

Comments

[1]	Jianmin Zheng,Jiangtao Luo,Hongshen Wan,Shizhao Li,Manyu Yang,Jun Li,Ennian Yang,Yun Jiang,Yubin Liu,Xiangquan Wang,Zongjun Pu. Pedigree and development of wheat varieties in Sichuan Province [J]. Hereditas(Beijing), 2019, 41(7): 599-610.
[2]	Yanchao Wang,Xiaoyan Ma,Xiaofang Sun,Jiajia Xian,Shaoying Li,Wenzhi He,Xiaoman Wang,Qing Li. Alleles dropout patterns of Y-short tandem repeats in infertile males with Y chromosome microdeletions [J]. Hereditas(Beijing), 2019, 41(3): 243-253.
[3]	Chunxia Liu, Lizhao Geng, Jianping Xu. Detection methods of genome editing in plants [J]. Hereditas(Beijing), 2018, 40(12): 1075-1091.
[4]	Mingxin Guo,Ling Zheng,Xusheng Zhao. Iron uptake, translocation and regulation in rice [J]. Hereditas(Beijing), 2017, 39(5): 388-395.
[5]	Jun Li, Xinguo Zhu, Hongshen Wan, Qin Wang, Zongxiang Tang, Shulan Fu, Zujun Yang, Manyu Yang, Wuyun Yang. Identification of the 1RS-7DS.7DL wheat-rye small segment translocation lines [J]. HEREDITAS(Beijing), 2015, 37(6): 590-598.
[6]	Gaigai Liu,Shuang Li,Yuda Wei,Yongxian Zhang,Qiurong Ding. Efficient genome editing in human pluripotent stem cells through CRISPR/Cas9 [J]. Hereditas(Beijing), 2015, 37(11): 1167-1173.
[7]	Yueli Wang, Junjie Ye, Zongfang Li, Shui Zheng, Li Ma, Hai Guo, Lijuan Yang, Baowen Cheng. Identification of null and duplicated alleles for forensic DYS549, DYS527 and DYS459 in male infertility population [J]. HEREDITAS(Beijing), 2014, 36(8): 786-792.
[8]	Yuanyuan Zhang, Qiang Du, Xiaoliang Liu, Wanting Cui, Rong He, Yanyan Zhao. Screening of azoospermia factor microdeletions on Y chromosome in infertile men by QF-PCR [J]. HEREDITAS(Beijing), 2014, 36(6): 552-557.
[9]	ZHANG Hua TAO Yu-Fen SHI Lei YAO Yu-Feng XIANG Hao LIN Ke-Qin HUANG Xiao-Qin CHU Jia-You SHI Li. Distribution of HLA-G 14 bp insertion/deletion polymor-phism and their associations with HLA-A alleles in four Chi-nese ethnic groups [J]. HEREDITAS, 2013, 35(2): 161-167.
[10]	BAI Ru-Feng, JIANG Li-Zhe, ZHANG Zhong, SHI Mei-Sen. Genetic polymorphism and forensic application of 30 InDel loci of Han population in Beijing [J]. HEREDITAS, 2013, 35(12): 1368-1376.
[11]	LI Shao-Yang, SUN Xiao-Fang, LI Jing, ZHANG Hui-Min, WANG Xiao-Man. Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population [J]. HEREDITAS, 2011, 33(3): 251-254.
[12]	. Analysis of the 14 bp insertion/deletion polymorphism in human leukocyte antigen-G gene in Chinese Dai and Han ethnic groups in Yunnan Province [J]. HEREDITAS, 2010, 32(6): 577-582.
[13]	LU Hong-Yong, CUI Ying-Xia, SHI Yi-Chao, XIA Xin-Yi, YANG Bin, YAO Bing, HUANG Yu-Feng. A girl with partial monosomy 18q21: cytogenetic and molecular ge-netics studies [J]. HEREDITAS, 2008, 30(8): 991-995.
[14]	JIANG Li-Hua, ZHAO Wen, HE Xiao-Bo, ZHANG Ting-Rong, SUN Jin-Hai. Polymorphisms of POU1F1 gene in 13/17 Robertsonian translocation pigs [J]. HEREDITAS, 2008, 30(8): 1015-1020.
[15]	ZHAO Xiao, SHEN Guo-Min, FENG Qi, SUN Xiao-Gang, LUO Yan. Cytogenetic studies of 131 patients with primary amenorrhea (including three novel abnormal karyotypes) [J]. HEREDITAS, 2008, 30(8): 996-1002.