中文版 | English
GSTDTAP  > 地球科学
DOI10.1126/science.aau6520
Germline selection shapes human mitochondrial DNA diversity
Wei, Wei1; 39;Sullivan, Jennifer2
2019-05-24
发表期刊SCIENCE
ISSN0036-8075
EISSN1095-9203
出版年2019
卷号364期号:6442页码:749-+
文章类型Article
语种英语
国家England; Scotland; Germany; Wales; Australia; France; Italy; USA; Belgium; Canada; Singapore; Japan; Argentina; Sweden; North Ireland; Netherlands; Austria
英文摘要

Approximately 2.4% of the human mitochondrial DNA (mtDNA) genome exhibits common homoplasmic genetic variation. We analyzed 12,975 whole-genome sequences to show that 45.1% of individuals from 1526 mother-offspring pairs harbor a mixed population of mtDNA (heteroplasmy), but the propensity for maternal transmission differs across the mitochondrial genome. Over one generation, we observed selection both for and against variants in specific genomic regions; known variants were more likely to be transmitted than previously unknown variants. However, new heteroplasmies were more likely to match the nuclear genetic ancestry as opposed to the ancestry of the mitochondrial genome on which the mutations occurred, validating our findings in 40,325 individuals. Thus, human mtDNA at the population level is shaped by selective forces within the female germ line under nuclear genetic control, which ensures consistency between the two independent genetic lineages.


领域地球科学 ; 气候变化 ; 资源环境
收录类别SCI-E
WOS记录号WOS:000469296000033
WOS关键词LEIGH-DISEASE ; HETEROPLASMY ; MTDNA ; MUTATIONS ; GENOME ; TRANSCRIPTION ; REPLICATION ; ASSOCIATION ; REPLACEMENT ; SEQUENCE
WOS类目Multidisciplinary Sciences
WOS研究方向Science & Technology - Other Topics
引用统计
文献类型期刊论文
条目标识符http://119.78.100.173/C666/handle/2XK7JSWQ/201486
专题地球科学
资源环境科学
气候变化
作者单位1.Univ Cambridge, Sch Clin Med, Dept Clin Neurosci, Cambridge Biomed Campus, Cambridge, England;
2.MRC, Mitochondrial Biol Unit, Cambridge Biomed Campus, Cambridge, England;
3.Univ Cambridge, Dept Haematol, Cambridge Biomed Campus, Cambridge, England;
4.Cambridge Univ Hosp NHS Fdn, NIHR BioResource, Cambridge Biomed Campus, Cambridge, England;
5.Genom England, Charterhouse Sq, London, England;
6.Imperial Coll London, Fac Med, MRC Clin Sci Ctr, London, England;
7.Univ Edinburgh, Inst Genet & Mol Med, Edinburgh, Midlothian, Scotland;
8.UCL Great Ormond St Inst Child Hlth, Genet & Genom Med Programme, London, England;
9.Great Ormond St Hosp Children NHS Fdn Trust, London, England;
10.Univ Oxford, John Radcliffe Hosp, Nuffield Dept Clin Neurosci, Oxford, England;
11.UCL, UCL Ctr Nephrol, London, England;
12.UCL, London, England;
13.Univ Manchester, Fac Biol Med & Hlth, Evolut & Genom Sci, Manchester, Lancs, England;
14.Manchester Univ Fdn NHS Trust, St Marys Hosp, Manchester Ctr Genom Med, Manchester, Lancs, England;
15.Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England;
16.Newcastle Upon Tyne Hosp NHS Fdn Trust, Newcastle Upon Tyne, Tyne & Wear, England;
17.Newcastle Upon Tyne Hosp NHS Fdn Trust, Northern Genet Serv, Newcastle Upon Tyne, Tyne & Wear, England;
18.UCL, UCL Inst Cardiovasc Sci, London, England;
19.St Bartholomews Hosp, Barts Hlth NHS Trust, Barts Heart Ctr, London, England;
20.Guys & St Thomas NHS Fdn Trust, Guys & St Thomas Hosp, London, England;
21.Guys & St Thomas NHS Fdn Trust, Clin Genet Dept, London, England;
22.Univ Cambridge, Sch Clin Med, Dept Med, Cambridge Biomed Campus, Cambridge, England;
23.Royal Papworth Hosp NHS Fdn Trust, Cambridge, England;
24.Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Hosp, Cambridge, England;
25.UCL Inst Neurol, Dept Mol Neurosci, London, England;
26.Kings Coll London, London, England;
27.Evelina London Childrens Hosp, Guys & St Thomas NHS Fdn Trust, Dept Paediat Nephrol, London, England;
28.Univ Cambridge, Cambridge Inst Med Res, Dept Med Genet, Cambridge Biomed Campus, Cambridge, England;
29.NIHR Cambridge Biomed Res Ctr, Cambridge Biomed Campus, Cambridge, England;
30.Univ Cambridge, Dept Clin Neurosci, Stroke Res Grp, Cambridge Biomed Campus, Cambridge, England;
31.Univ Oxford, MRC Weatherall Inst Mol Med, MRC Mol Haematol Unit, Oxford, England;
32.Univ Oxford, Weatherall Inst Mol Med, Dept Paediat, Oxford, England;
33.Oxford Univ Hosp Trust, NIHR Oxford Biomed Res Ctr, Oxford, England;
34.Newcastle Univ, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England;
35.Univ Oxford, Wellcome Ctr Human Genet, Oxford, England;
36.Univ Oxford, Radcliffe Dept Med, Dept Cardiovasc Med, Oxford, England;
37.Oxford Univ Hosp NHS Fdn Trust, Oxford, England;
38.Moorfields Eye Hosp NHS Fdn Trust, London, England;
39.UCL, UCL Inst Ophthalmol, London, England;
40.Univ Oxford, MRC Weatherall Inst Mol Med, John Radcliffe Hosp, Oxford, England;
41.Kings Coll London, Div Womens Hlth, London, England;
42.Imperial Coll Healthcare NHS Trust, Hammersmith Hosp, Inst Reprod & Dev Biol Surg & Canc, London, England;
43.Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England;
44.Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge, England;
45.NHS Blood & Transplant, Cambridge Biomed Campus, Cambridge, England;
46.Univ Cambridge, British Heart Fdn, Cambridge Ctr Excellence, Cambridge, England;
47.Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Hosp, Dept Renal Med, Cambridge, England;
48.Queen Mary Univ London, NIHR Biomed Res Ctr Barts, William Harvey Res Inst, London, England;
49.Univ Cambridge, Cambridge Inst Publ Hlth, MRC Biostat Unit, Cambridge, England;
50.Royal Free London NHS Fdn Trust, Katharine Dormandy Haemophilia Ctr, London, England;
51.Royal Free London NHS Fdn Trust, Thrombosis Unit, London, England;
52.Imperial Coll Healthcare NHS Trust, Hammersmith Hosp, Dept Haematol, London, England;
53.Imperial Coll London, Ctr Haematol, London, England;
54.Barts Hlth NHS Fdn Trust, Royal London Hosp, London, England;
55.Cambridge Univ Hosp NHS Fdn Trust, Dept Haematol, Cambridge, England;
56.Queen Mary Univ London, London, England;
57.Univ Bristol, Sch Cellular & Mol Med, Bristol, Avon, England;
58.Univ Hosp Bristol NHS Fdn Trust, Bristol, Avon, England;
59.Castle Hill Hosp, Queens Ctr Haematol & Oncol, Hull & East Yorkshire NHS Trust, Cottingham, England;
60.Univ Hull, Hull York Med Sch, Kingston Upon Hull, N Humberside, England;
61.Univ Hosp Tubingen, Ctr Clin Transfus Med, Tubingen, Germany;
62.Newcastle Upon Tyne Hosp NHS Fdn Trust, Haematol Dept, Royal Victoria Infirm, Newcastle Upon Tyne, Tyne & Wear, England;
63.Univ Hosp Southampton NHS Fdn Trust, Southampton Gen Hosp, Southampton, Hants, England;
64.Cardiff Univ, Sch Med, Inst Infect & Immun, Cardiff, S Glam, Wales;
65.Oxford Univ Hosp NHS Trust, Oxford Comprehens Biomed Res Ctr, Oxford Haemophilia & Thrombosis Ctr, Oxford, England;
66.Royal Liverpool Univ Hosp, Roald Dahl Haemostasis & Thrombosis Ctr, Liverpool, Merseyside, England;
67.Univ Western Australia, Med Sch, Crawley, Australia;
68.Univ Western Australia, Fac Hlth & Med Sci, Sch Biomed Sci, Crawley, Australia;
69.East Kent Hosp Univ Fdn Trust, Kent & Canterbury Hosp, Haemophilia Ctr, Canterbury, Kent, England;
70.Salisbury NHS Fdn Trust, Salisbury Dist Hosp, Salisbury, Wilts, England;
71.Hampshire Hosp NHS Fdn Trust, Haemophilia Haemostasis & Thrombosis Ctr, Basingstoke, Hants, England;
72.Univ Paris Saclay, INSERM, UMR 1170, Gustave Roussy Canc Campus, Villejuif, France;
73.Hop Armand Trousseau, AP HP, Ctr Reference Pathol Plaquettaires, Serv Hematol Biol, Paris, France;
74.Univ Perugia, Sect Internal & Cardiovasc Med, Perugia, Italy;
75.Childrens Hosp Philadelphia, Div Hematol, Philadelphia, PA 19104 USA;
76.Univ Penn, Dept Pediat, Perelman Sch Med, Philadelphia, PA 19104 USA;
77.Guys & St Thomas NHS Fdn Trust, Dept Haematol, London, England;
78.Great Ormond St Hosp Children NHS Fdn Trust, Dept Haematol, London, England;
79.Univ Hosp Wales, Arthur Bloom Haemophilia Ctr, Cardiff, S Glam, Wales;
80.KULeuven, Ctr Mol & Vasc Biol, Dept Cardiovasc Sci, Leuven, Belgium;
81.Beth Israel Deaconess Med Ctr, Boston, MA 02215 USA;
82.Harvard Med Sch, Boston, MA 02115 USA;
83.Univ Coll London Hosp NHS Fdn Trust, London, England;
84.Oxford Univ Hosp NHS Trust, Churchill Hosp, Oxford Haemophilia & Thrombosis Ctr, Oxford, England;
85.NHS Greater Glasgow & Clyde, Glasgow Royal Infirm, Glasgow, Lanark, Scotland;
86.Sheffield Teaching Hosp NHS Fdn Trust, Dept Neurol, Sheffield, S Yorkshire, England;
87.Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Hosp, Dept Clin Genet, Cambridge, England;
88.Univ Glasgow, Inst Neurosci & Psychol, Glasgow, Lanark, Scotland;
89.Leeds Teaching Hosp NHS Trust, Dept Neurol, Leeds, W Yorkshire, England;
90.Great Ormond St Hosp Children NHS Fdn Trust, North East Thames Reg Genet Serv, London, England;
91.Dalhousie Univ, IWK Hlth Ctr, Div Med Genet, Halifax, NS, Canada;
92.Imperial Coll London, Natl Heart & Lung Inst, London, England;
93.Royal Brompton & Harefield NHS Fdn Trust, Royal Brompton Hosp, London, England;
94.Kings Coll Hosp NHS Fdn Trust, London, England;
95.Imperial Coll London, MRC London Inst Med Sci, London, England;
96.Natl Heart Ctr Singapore, Natl Heart Res Inst Singapore, Singapore, Singapore;
97.Duke Natl Univ Singapore, Div Cardiovasc & Metab Disorders, Singapore, Singapore;
98.Osaka Univ, Grad Sch Engn, Dept Biotechnol, Suita, Osaka, Japan;
99.Imperial Coll Healthcare NHS Trust, Hammersmith Hosp, Fac Med, Womens Hlth Res Ctr Surg & Canc, London, England;
100.Ramon Sarda Mothers & Childrens Hosp, Buenos Aires, DF, Argentina;
101.Univ Adelaide, Womens & Childrens Hosp, Womens & Childrens Hosp, Discipline Obstet & Gynaecol,Robinson Res Inst, Adelaide, SA, Australia;
102.Univ Gothenburg, Sahlgrenska Acad, Dept Mol & Clin Med, Gothenburg, Sweden;
103.Univ Cambridge, Sch Clin Med, Dept Paediat, Cambridge Biomed Campus, Cambridge, England;
104.UCSF Sch Med, Ophthalmol Dept, San Francisco, CA USA;
105.Newcastle Univ, Inst Med Genet, Wellcome Ctr Mitochondrial Res, Newcastle Upon Tyne, Tyne & Wear, England;
106.Newcastle Univ, Inst Genet Med, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England;
107.Canc Res UK Cambridge Ctr, Cambridge Biomed Campus, Cambridge, England;
108.Leeds Teaching Hosp NHS Trust, Chapel Allerton Hosp, Yorkshire Reg Genet Serv, Leeds, W Yorkshire, England;
109.Royal Devon & Exeter NHS Fdn Trust, Royal Devon & Exeter Hosp, Dept Clin Genet, Exeter, Devon, England;
110.Birmingham Womens & Childrens NHS Fdn Trust, West Midlands Reg Genet Serv, Birmingham, W Midlands, England;
111.Manchester Univ NHS Fdn Trust, Manchester, Lancs, England;
112.Liverpool Womens NHS Fdn, Dept Clin Genet, Liverpool, Merseyside, England;
113.St Georges Univ Hosp NHS Fdn Trust, Dept Clin Genet, London, England;
114.Guys & St Thomas NHS Fdn Trust, Dept Clin Genet, London, England;
115.Cambridge Univ Hosp NHS Fdn Trust, East Anglian Med Genet Serv, Cambridge, England;
116.Nottingham Univ Hosp NHS Trust, Dept Clin Genet, Nottingham, England;
117.Univ Cambridge, Dept Med Genet, Cambridge, England;
118.Univ Cambridge, NIHR Cambridge Biomed Res Ctr, Cambridge, England;
119.UCL Great Ormond St Inst Child Hlth, Dev Neurosci, London, England;
120.Great Ormond St Hosp Children NHS Fdn Trust, Dept Neurol, London, England;
121.Salford Royal NHS Fdn Trust, Salford, Lancs, England;
122.Univ Manchester, Inst Human Dev, Ctr Endocrinol & Diabet, Fac Med & Human Sci, Manchester, Lancs, England;
123.Cent Manchester Univ Hosp Natl Hlth Serv Fdn Trus, Manchester Acad, Hlth Sci Ctr, Dept Clin Neurophysiol,Manchester Royal Infirm, Manchester, Lancs, England;
124.Natl Inst Hlth Res, Wellcome Trust Clin Res Facil, Manchester, Lancs, England;
125.Univ Coll London Hosp NHS Fdn Trust, Natl Hosp Neurol & Neurosurg, London, England;
126.UCL Inst Neurol, Dept Mol Neurosci, MRC Ctr Neuromuscular Dis, London, England;
127.Univ Oxford, Churchill Hosp, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England;
128.Imperial Coll London, Fac Med, Dept Surg & Canc, Pain Res, London, England;
129.Chelsea & Westminster Hosp NHS Fdn Trust, Pain Med, London, England;
130.UCL Great Ormond St Inst Child Hlth, London, England;
131.Univ Cambridge, Sch Biol Sci, MRC Toxicol Unit, Cambridge, England;
132.Dept Clin Immunol & Allergy, Leeds, W Yorkshire, England;
133.NIHR Leeds Biomed Res Ctr, Leeds, W Yorkshire, England;
134.St James Univ Hosp, Leeds Inst Rheumat & Musculoskeletal Med, Leeds, W Yorkshire, England;
135.Univ Hosp Birmingham NHS Fdn Trust, Birmingham, W Midlands, England;
136.Cambridge Univ Hosp NHS Fdn Trust, Div Clin Biochem & Immunol, Cambridge, England;
137.Leicester Royal Infirm, Dept Immunol, Leicester, Leics, England;
138.Royal Free London NHS Fdn Trust, London, England;
139.Imperial Coll London, Dept Med, London, England;
140.Royal Hosp, Reg Immunol Serv, Belfast, Antrim, North Ireland;
141.Queens Univ Belfast, Belfast, Antrim, North Ireland;
142.Sheffield Teaching Hosp NHS Fdn Trust, Sheffield, S Yorkshire, England;
143.Univ Hosp North Midlands NHS Trust, Stoke On Trent, Staffs, England;
144.Hull & East Yorkshire Hosp NHS Trust, Hull Royal Infirm, East Yorkshire Reg Adult Immunol & Allergy Unit, Kingston Upon Hull, N Humberside, England;
145.Barts Hlth NHS Fdn Trust, London, England;
146.Univ Hosp Birmingham NHS Fdn Trust, Birmingham Heartlands Hosp, Birmingham, W Midlands, England;
147.Royal Hosp Children, NHS Greater Glasgow & Clyde, Glasgow, Lanark, Scotland;
148.Epsom & St Helier Univ Hosp NHS Trust, London, England;
149.Univ Hosp Wales, Immunodeficiency Ctr Wales, Cardiff, S Glam, Wales;
150.Imperial Coll London, Dept Med, Chelsea & Westminster Hosp, Ctr Immunol & Vaccinol, London, England;
151.Royal Brompton & Harefield NHS Fdn Trust, Dept Resp Med, London, England;
152.Cambridge Univ Hosp NHS Fdn Trust, Addenbrookes Hosp, Dept Clin Immunol, Cambridge, England;
153.Sandwell & West Birmingham Hosp NHS Trust, Birmingham, W Midlands, England;
154.Northern Lincolnshire & Goole NHS Fdn Trust, Scunthorpe Gen Hosp, Scunthorpe, England;
155.Gartnavel Royal Hosp, NHS Greater Glasgow & Clyde, Glasgow, Lanark, Scotland;
156.Queen Elizabeth Univ Hosp, Glasgow, Lanark, Scotland;
157.Frimley Pk Hosp, NHS Frimley Hlth Fdn Trust, Camberley, England;
158.Univ Amsterdam, AMC, Emma Childrens Hosp, Dept Pediat Hematol Immunol Rheumatol & Infect Di, Amsterdam, Netherlands;
159.Sanquin, Dept Blood Cell Res, Amsterdam, Netherlands;
160.Newcastle Univ, Fac Med Sci, Inst Cellular Med, Newcastle Upon Tyne, Tyne & Wear, England;
161.Imperial Coll Healthcare NHS Trust, Hammersmith Hosp, Imperial Coll Renal & Transplant Ctr, London, England;
162.Nottingham Univ Hosp NHS Trust, Nottingham, England;
163.Royal Victoria Infirm, Natl Renal Complement Therapeut Ctr, Newcastle Upon Tyne, Tyne & Wear, England;
164.Newcastle Upon Tyne Hosp NHS Fdn Trust, Great North Childrens Hosp, Dept Paediat Nephrol, Newcastle Upon Tyne, Tyne & Wear, England;
165.Vrije Univ Amsterdam, Med Ctr, Dept Pulm Med, Amsterdam, Netherlands;
166.Golden Jubilee Natl Hosp, Glasgow, Lanark, Scotland;
167.Royal Hallamshire Hosp NHS Fdn Trust, Sheffield Pulm Vasc Dis Unit, Sheffield, S Yorkshire, England;
168.Newcastle Upon Tyne Hosp NHS Fdn Trust, Natl Pulm Hypertens Serv Newcastle, Newcastle Upon Tyne, Tyne & Wear, England;
169.Univ Pavia, Dept Mol Med, Gen Biol, Pavia, Italy;
170.Univ Pavia, Med Genet Unit, Pavia, Italy;
171.Hop La Pitie Salpetriere, AP HP, Dept Genet, Paris, France;
172.Hop La Pitie Salpetriere, AP HP, ICAN, Paris, France;
173.UGMLC, Giessen, Germany;
174.Univ Paris Saclay, Univ Paris Sud, Fac Med, Le Kremlin Bicetre, France;
175.Hop Bicetre, AP HP, Ctr Reference Hypertens Pulmonaire, Serv Pneumol, Le Kremlin Bicetre, France;
176.Hosp Marie Lannelongue, INSERM, U999, Le Plessis Robinson, France;
177.Imperial Coll Healthcare NHS Trust, Natl Pulm Hypertens Serv, London, England;
178.Ludwig Boltzmann Inst Lung Vasc Res, Graz, Austria;
179.Med Univ Graz, Div Pulmonol, Dept Internal Med, Graz, Austria;
180.Univ Sheffield, Dept Infect Immun & Cardiovasc Dis, Sheffield, S Yorkshire, England;
181.Royal United Hosp Bath NHS Fdn Trust, Bath, Avon, England;
182.Fdn IRCCS Policlin S Matteo, Div Cardiol, Pavia, Italy;
183.Vrije Univ Amsterdam, Med Ctr, Dept Clin Genet, Amsterdam, Netherlands;
184.Imperial Coll London, London, England;
185.Univ Bristol, Bristol Med Sch, Bristol Renal & Childrens Renal Unit, Bristol, Avon, England;
186.Univ Hosp Bristol NHS Fdn Trust, Bristol Royal Hosp Children, Bristol, Avon, England;
187.North Bristol NHS Trust, Bristol, Avon, England;
188.Great Ormond St Hosp Sick Children, London Ctr Paediat Endocrinol & Diabet, London, England;
189.NIHR Great Ormond St Biomed Res Ctr, London, England;
190.UCL, UCLH, Arthritis Res UK Ctr Adolescent Rheumatol, London, England;
191.GOSH, London, England;
192.Kings Coll London, Florence Nightingale Fac Nursing Midwifery & Pall, London, England;
193.St Thomas Hosp, Guys & St Thomas NHS Fdn Trust, St Johns Inst Dermatol, London, England;
194.Oxford Univ Hosp NHS Fdn Trust, Oxford Med Genet Labs, Oxford, England;
195.Oxford Univ Hosp NHS Trust, Churchill Hosp, Dept Clin Genet, Oxford, England;
196.Univ Birmingham, Inst Biomed Res, Inst Canc & Genom Sci, Birmingham, W Midlands, England;
197.Oxford Univ Hosp NHS Fdn Trust, John Radcliffe Hosp, Dept Clin Immunol, Oxford, England;
198.Oxford Univ Hosp Fdn Trust, Dept Haematol, Oxford, England;
199.Univ Oxford, Nuffield Dept Clin Neurosci, Oxford Epilepsy Res Grp, Oxford, England;
200.Univ Oxford, Nuffield Dept Surg, Oxford, England;
201.Newcastle Upon Tyne Hosp NHS Fdn Trust, Royal Victoria Infirm, Newcastle Eye Ctr, Newcastle Upon Tyne, Tyne & Wear, England;
202.Newcastle Univ, NIHR Ctr Aging, Newcastle Upon Tyne, Tyne & Wear, England;
203.Newcastle Univ, Newcastle BRC, Newcastle Upon Tyne, Tyne & Wear, England;
204.Moorfields Eye Hosp, NIHR Biomed Res Ctr, London, England;
205.UCL Inst Ophthalmol, London, England;
206.Kings Coll London, Genet & Mol Med, London, England
推荐引用方式
GB/T 7714		 Wei, Wei,39;Sullivan, Jennifer. Germline selection shapes human mitochondrial DNA diversity[J]. SCIENCE,2019,364(6442):749-+.
APA Wei, Wei,&39;Sullivan, Jennifer.(2019).Germline selection shapes human mitochondrial DNA diversity.SCIENCE,364(6442),749-+.
MLA Wei, Wei,et al."Germline selection shapes human mitochondrial DNA diversity".SCIENCE 364.6442(2019):749-+.
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