非编码区三核苷酸重复序列动态突变及相关疾病机制的研究进展
被引量:1
摘要
三核苷酸重复序列普遍存在于真核生物基因组。三核苷酸重复序列的动态突变与多种人类遗传疾病密切相关。这种动态突变可发生在基因的编码区和非编码区。非编码区三核苷酸动态突变引起的疾病有脆性X综合症 (FragileXsyndrome)、强直性肌营养不良症 (DM )、Friedreich共济失调 (FRDA) ,其遣传不稳定机制为发夹模式和重组修复 (基因转变 )
出处
《国外医学(生理病理科学与临床分册)》
2003年第2期119-121,共3页
Foreign Medical Sciences(Pathophysiology and Clinical Medicine)
参考文献22
-
1Venter JC, Adams MD, Myers EW,et al. The Sequence of the Human Genome [ J ]. Science, 2001, 291 ( 5507 ) : 1304-1351.
-
2Margolis RL, McInnis MG, Rosenblatt A, et al. Trinucleotide repeat expansion and neuropsychiatric disease [ J ]. Arch Gen Psychiatry, 1999,56 : 1019-1031.
-
3Wolford JK, Bogardus C, Prochazka M. Genome-wide scan for CAG/CTG repeat expansions in Pimas with early onset of type 2 diabetes mellitus [ J ]. Mol Genet Metab, 1999,66 ( 1 ) :62 -67.
-
4Grabczyk E, Kumari D, Vstin K,et al. Fragile X syndrome and Friedreich′s ataxia: two different paradigms for repeat induced transcript insufficiency [ J ]. Brain Res Bull ,2001,56 (34) :367-373.
-
5Tassone F, Hagerman RJ, Taylor K,et al. Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome[J]. Am J Hum Genet,2000,66( 1 ) :6-15.
-
6Tassone F, Hagerman R J, Loesch DZ, et al. Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA [ J ]. Am J Med Genet,2000,94:232-236.
-
7Tassone F, Hagerman R J, Chamberlain WD,et al. Transcription of the FMR1 gene in individuals with fragile X syndrome [ J ]. Am J Med Genet, 2000,97 : 195-203.
-
8Van den Broek WJ, Nelen MR,Wansink DG,et al. Somatic expansion behaviour of the (CTG) nrepeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins[J]. Hum Mol Genet, 2002,11:191-198.
-
9Depardon F, Cisneros B, Alonso-Vilatela E, et al. Myotonic dystrophy protein kinase (dmpk) gene expression in lymphocytes of patients with myotonic dystrophy[J]. Arch Med Res,2001,32: 123-128.
-
10Fardaei M, Larkin K, Brook JD, et al. In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts[ J ]. Nucleic Acids Res, 2001,29:2766-2771.
同被引文献25
-
1SHIMAJIRI S, ARIMA N, TANIMOTO A, et al. Short- ened microsatellite d (CA) 21 sequence down-regulates promoter activity of matrix metalloproteinase 9 gene[ J ]. FEBS Letters, 1999, 455(1 ): 70-74.
-
2STREELMAN J T, KOCHER T D. Microsatellite varia- tion associated with prolactin expression and growth of salt-challenged tilapia [ J ]. Physiological Genomics, 2002, 9(1): 1 -4.
-
3TAUTZ D, Hypervariability of simple sequences as a general source for polymorphic DNA markers [ J]. Nu- cleic Acids Research, 1989, 17 (16) : 6463 - 6471.
-
4SAVELIEV A, EVERETT C, SHARPE T, et al. DNA triplet repeats mediate heteroehromatin-protein-l-sensi- tire variegated gene silencing [ J ]. Nature, 2003, 422 : 909 - 913.
-
5DONKOR J, SARIAHMETOGLU M, DEWALD J, et al. Three mammalian lipins act as phosphatidate phos- phatases with distinct tissue expression patterns [ J ]. Journal of Biological Chemistry ,2007, 282 ( 6 ) : 3450 - 3457.
-
6SANTOS-ROSA H, LEUNG J, GRIMSEY N, et al. The yeast lipin Smp2 couples phospholipid biosynthesis to nuclear membrane growth[ J]. EMBO Journal, 2005, 24(11): 1931 -1941.
-
7HAN G S, WU W I, CARMAN G M. The Saccharomy- ces cerevisiae Lipin homolog is a Mg2+ -dependent phos- phatidate phosphatase enzyme[ J]. Journal of Biological Chemistry, 2006, 281( 14): 9210-9218.
-
8GALE S E, FROLOV A, HAN X, et al. A regulatory role for 1-acylglycerol-3-phosphate-O-acyltransferase 2 in adipocyte differentiation [ J 3. Journal of Biological Chemistry, 2006, 281 (16) : 11082 - 11089.
-
9SUVIOLAHTI E, REUE K, CANTOR R M, et al. Cross-species analyses implicate Lipinl involvement in human glucose metabolism [ J ]. Human Molecular Ge- netics, 2006, 15(3): 377-386.
-
10PETERFY M, PHAN J, REUE K. Alternatively spliced lipin isoforms exhibit distinct expression pattern, subcellu- lar localization, and role in adipogenesis [ J 1. Journal of Biological Chemistry, 2005, 280(38): 32883- 32889.
-
1姜志艳.三核苷重复序列动态突变及疾病机制的研究[J].阴山学刊(自然科学版),2008,0(1):43-45. 被引量:1
-
2李新伟,刘建新,黄月丽,陈晓蕾,陈辉,李晓文.2个亨廷顿舞蹈病家系动态突变及mtDNA D环高变区的检测[J].基础医学与临床,2011,31(1):37-40. 被引量:2
-
3赵晓军,谢忠明.基因治疗中基因转移载体的研究进展[J].微循环学杂志,2010,20(4):55-56.
-
4吴忧,谭信,安威.动态突变的产生、致病作用及主要相关疾病[J].国外医学(遗传学分册),2003,26(6):324-328. 被引量:3
-
5王波,唐艳平,陈燕,王慧,杨真荣,田虹.Huntington舞蹈症的IT15基因诊断[J].中国优生与遗传杂志,2005,13(7):25-27.
-
6沈岩.动态突变——导致人类疾病的一种新突变类型[J].生命的化学,1993,13(5):22-23.
-
7姜淼,金春莲.脊髓小脑共济失调研究新进展[J].国外医学(遗传学分册),2003,26(6):333-337. 被引量:3
-
8刘丹,郭洪,王凯,白云.脊髓小脑性共济失调一家系的遗传学研究[J].第三军医大学学报,2011,33(11):1152-1154. 被引量:5
-
9曹蕾,郑仲承,刘新垣.动态突变——人类遗传病发生的一种新机制[J].自然杂志,1996,18(2):92-96.
-
10李宁,苏玉虹,朱宝琴.人类基因组中短串联重复序列的研究及应用现状[J].锦州医学院学报,2004,25(5):61-64. 被引量:5