کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2023966 | 1069832 | 2010 | 12 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Genomic rearrangements in inherited disease and cancer
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کلمات کلیدی
DSBfork stalling and template switchingFoSTesRoHSCNMNAHRLCRsssDNAaCGHCNVNHEJSRSSSABIR - BRSingle-stranded DNA - DNA تک رشته ایHolliday junction - اتصال HollidayRuns of homozygosity - اجرای هموزیگوییArray comparative genomic hybridization - اریبر هیبریداسیون ژنومی مقایسه ایSingle-strand annealing - انلینگ تک رشته ایGenomic rearrangements - بازسازی ژنومیکcopy number variation - تنوع نسخه کپیbreak-induced replication - تکرار ناشی از شکستگیLow copy repeats - تکرار کپی کمD-loop - حلقه Ddisplacement loop - حلقه جابجاییCancer - سرطانdouble-strand break - شکست دو ردیفnon-homologous end joining - عدم پیوستن انتهای غیر همولوگLong interspersed element-1 - عنصر مشتق شده طولانی 1Non-allelic homologous recombination - نوترکیب همولوگ مشابه غیر آللHomologous recombination - نوترکیبی همولوگ
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Genomic rearrangements in inherited disease and cancer involve gross alterations of chromosomes or large chromosomal regions and can take the form of deletions, duplications, insertions, inversions or translocations. The characterization of a considerable number of rearrangement breakpoints has now been accomplished at the nucleotide sequence level, thereby providing an invaluable resource for the detailed study of the mutational mechanisms which underlie genomic recombination events. A better understanding of these mutational mechanisms is vital for improving the design of mutation detection strategies. At least five categories of mutational mechanism are known to give rise to genomic rearrangements: (i) homologous recombination including non-allelic homologous recombination (NAHR), gene conversion, single strand annealing (SSA) and break-induced replication (BIR), (ii) non-homologous end joining (NHEJ), (iii) microhomology-mediated replication-dependent recombination (MMRDR), (iv) long interspersed element-1 (LINE-1 or L1)-mediated retrotransposition and (v) telomere healing. Focussing on the first three of these general mechanisms, we compare and contrast their hallmark characteristics, and discuss the role of various local DNA sequence features (e.g. recombination-promoting motifs, repetitive sequences and sequences capable of non-B DNA formation) in mediating the recombination events that underlie gross genomic rearrangements. Finally, we explore how studies both at the level of the gene (using the neurofibromatosis type-1 gene as an example) and the whole genome (using data derived from cancer genome sequencing studies) are shaping our understanding of the impact of genomic rearrangements as a cause of human genetic disease.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Cancer Biology - Volume 20, Issue 4, August 2010, Pages 222-233
Journal: Seminars in Cancer Biology - Volume 20, Issue 4, August 2010, Pages 222-233
نویسندگان
Jian-Min Chen, David N. Cooper, Claude Férec, Hildegard Kehrer-Sawatzki, George P. Patrinos,