Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines.
Comparison of mitochondrial DNA sequences from whole blood and lymphoblastoid cell lines.
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DOI：
10.1038/s41598-022-05814-7
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发表时间：
2022-02-02
影响因子：
4.6
通讯作者：
Levy D
中科院分区：
文献类型：
--
作者：
Liu C;Fetterman JL;Sun X;Yan K;Liu P;Luo Y;Ding J;Zhu J;Levy D
淋巴母细胞系(LCL)为遗传学研究提供了无限的基因组DNA来源。在这里，我们比较了弗雷明翰心脏研究中相同130名参与者的LCL(用mitoRCA-seq方法测序)和全血样本(通过全基因组测序方法测序)之间的mtDNA序列变异，异质或同质。我们对mtDNA序列应用了序列覆盖的协调和一致的质量控制。我们在130个LCL样本中确定了866个变异位点，在130个血液样本中确定了666个变异位点。超过94%的已鉴定的同质性存在于LCL和血液样本中，而超过70%的异质性位置是唯一存在于LCL或血液样本中的。LCL和全血样本每个样本携带相同数量的同质变异(p = 0.45)，而LCL每个样本携带的异质变异数量多于全血(p <； 2.2e−16)。此外，LCL样本比它们的配对血液样本倾向于积累低水平的异质性(异质性水平在3-25%)(p = 0.001)。这些结果表明，当应用不同的组织/细胞类型或不同的测序技术来获得mtDNA序列时，在解释和比较结果时应谨慎。
Lymphoblastoid cell lines (LCLs) provide an unlimited source of genomic DNA for genetic studies. Here, we compared mtDNA sequence variants, heteroplasmic or homplasmic, between LCL (sequenced by mitoRCA-seq method) and whole blood samples (sequenced through whole genome sequencing approach) of the same 130 participants in the Framingham Heart Study. We applied harmonization of sequence coverages and consistent quality control to mtDNA sequences. We identified 866 variation sites in the 130 LCL samples and 666 sites in the 130 blood samples. More than 94% of the identified homoplasmies were present in both LCL and blood samples while more than 70% of heteroplasmic sites were uniquely present either in LCL or in blood samples. The LCL and whole blood samples carried a similar number of homoplasmic variants (p = 0.45) per sample while the LCL carried a greater number of heteroplasmic variants than whole blood per sample (p < 2.2e−16). Furthermore, the LCL samples tended to accumulate low level heteroplasmies (heteroplasmy level in 3–25%) than their paired blood samples (p = 0.001). These results suggest that cautions should be taken in the interpretation and comparison of findings when different tissues/cell types or different sequencing technologies are applied to obtain mtDNA sequences.
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DOI：
10.1111/j.1749-6632.2002.tb02113.x
发表时间：
2002-01-01
期刊：
INCREASING HEALTHY LIFE SPAN: CONVENTIONAL MEASURES AND SLOWING THE INNATE AGING PROCESS
影响因子：
--
作者：
Coller, HA;Bodyak, ND;Khrapko, K
通讯作者：
Khrapko, K
MitoRCA-seq 揭示了 Polg 突变小鼠中胞嘧啶向胸腺嘧啶转变的不平衡。
影响因子：
4.6
作者：
Ni T;Wei G;Shen T;Han M;Lian Y;Fu H;Luo Y;Yang Y;Liu J;Wakabayashi Y;Li Z;Finkel T;Xu H;Zhu J
通讯作者：
Zhu J
影响因子：
5.3
作者：
Liu C;Fetterman JL;Liu P;Luo Y;Larson MG;Vasan RS;Zhu J;Levy D
通讯作者：
Levy D
影响因子：
5
作者：
Splansky, Greta Lee;Corey, Diane;Levy, Daniel
通讯作者：
Levy, Daniel
影响因子：
64.8
作者：
Taliun D;Harris DN;Kessler MD;Carlson J;Szpiech ZA;Torres R;Taliun SAG;Corvelo A;Gogarten SM;Kang HM;Pitsillides AN;LeFaive J;Lee SB;Tian X;Browning BL;Das S;Emde AK;Clarke WE;Loesch DP;Shetty AC;Blackwell TW;Smith AV;Wong Q;Liu X;Conomos MP;Bobo DM;Aguet F;Albert C;Alonso A;Ardlie KG;Arking DE;Aslibekyan S;Auer PL;Barnard J;Barr RG;Barwick L;Becker LC;Beer RL;Benjamin EJ;Bielak LF;Blangero J;Boehnke M;Bowden DW;Brody JA;Burchard EG;Cade BE;Casella JF;Chalazan B;Chasman DI;Chen YI;Cho MH;Choi SH;Chung MK;Clish CB;Correa A;Curran JE;Custer B;Darbar D;Daya M;de Andrade M;DeMeo DL;Dutcher SK;Ellinor PT;Emery LS;Eng C;Fatkin D;Fingerlin T;Forer L;Fornage M;Franceschini N;Fuchsberger C;Fullerton SM;Germer S;Gladwin MT;Gottlieb DJ;Guo X;Hall ME;He J;Heard-Costa NL;Heckbert SR;Irvin MR;Johnsen JM;Johnson AD;Kaplan R;Kardia SLR;Kelly T;Kelly S;Kenny EE;Kiel DP;Klemmer R;Konkle BA;Kooperberg C;Köttgen A;Lange LA;Lasky-Su J;Levy D;Lin X;Lin KH;Liu C;Loos RJF;Garman L;Gerszten R;Lubitz SA;Lunetta KL;Mak ACY;Manichaikul A;Manning AK;Mathias RA;McManus DD;McGarvey ST;Meigs JB;Meyers DA;Mikulla JL;Minear MA;Mitchell BD;Mohanty S;Montasser ME;Montgomery C;Morrison AC;Murabito JM;Natale A;Natarajan P;Nelson SC;North KE;O'Connell JR;Palmer ND;Pankratz N;Peloso GM;Peyser PA;Pleiness J;Post WS;Psaty BM;Rao DC;Redline S;Reiner AP;Roden D;Rotter JI;Ruczinski I;Sarnowski C;Schoenherr S;Schwartz DA;Seo JS;Seshadri S;Sheehan VA;Sheu WH;Shoemaker MB;Smith NL;Smith JA;Sotoodehnia N;Stilp AM;Tang W;Taylor KD;Telen M;Thornton TA;Tracy RP;Van Den Berg DJ;Vasan RS;Viaud-Martinez KA;Vrieze S;Weeks DE;Weir BS;Weiss ST;Weng LC;Willer CJ;Zhang Y;Zhao X;Arnett DK;Ashley-Koch AE;Barnes KC;Boerwinkle E;Gabriel S;Gibbs R;Rice KM;Rich SS;Silverman EK;Qasba P;Gan W;NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium;Papanicolaou GJ;Nickerson DA;Browning SR;Zody MC;Zöllner S;Wilson JG;Cupples LA;Laurie CC;Jaquish CE;Hernandez RD;O'Connor TD;Abecasis GR
通讯作者：
Abecasis GR