Epernicus: Daniel G MacArthur, Ph.D.

Daniel G MacArthur, Ph.D.

Position:
Post Doctoral Fellow

Human Evolution

Wellcome Trust Sanger Institute (Cambridgeshire, UK)
Advisor:
Chris Tyler-Smith
Degrees:

Ph.D., Genetics, University of Sydney (Sydney, Australia)

B.Sc., Medicine, University of Sydney (Sydney, Australia)
Past Advisors:

Kathryn North (as Graduate Student - Ph.D.)
Research:

Communities:

Daniel MacArthur's Genealogy

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Daniel MacArthur's Publications (28)

Deficiency of {alpha}-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.
Seto JT, Lek M, Quinlan KG, Houweling PJ, Zheng XF, Garton F, Macarthur DG, Raftery JM, Garvey SM, Hauser MA, Yang N, Head SI, North KN

Human molecular genetics. 2011 Aug 1;20(15):2914-27
Demographic history and rare allele sharing among human populations.
Gravel S, Henn BM, Gutenkunst RN, Indap AR, Marth GT, Clark AG, Yu F, Gibbs RA, Bustamante CD

Proceedings of the National Academy of Sciences of the United States of America. 2011 Jul 19;108(29):11983-8
α-Actinin-3 deficiency is associated with reduced bone mass in human and mouse.
Yang N, Schindeler A, McDonald MM, Seto JT, Houweling PJ, Lek M, Hogarth M, Morse AR, Raftery JM, Balasuriya D, Macarthur DG, Berman Y, Eisman JA, Nguyen TV, Center JR, Prince RL, Wilson SG, Zhu K, Little DG, North KN

Bone. 2011 Jul 21
Dindel: accurate indel calls from short-read data.
Albers CA, Lunter G, MacArthur DG, McVean G, Ouwehand WH, Durbin R

Genome research. 2011 Jun;21(6):961-73
The effect of α-actinin-3 deficiency on muscle aging.
Seto JT, Chan S, Turner N, MacArthur DG, Raftery JM, Berman YD, Quinlan KG, Cooney GJ, Head S, Yang N, North KN

Experimental gerontology. 2011 Apr;46(4):292-302
Mapping copy number variation by population-scale genome sequencing.
Mills RE, Walter K, Stewart C, Handsaker RE, Chen K, Alkan C, Abyzov A, Yoon SC, Ye K, Cheetham RK, Chinwalla A, Conrad DF, Fu Y, Grubert F, Hajirasouliha I, Hormozdiari F, Iakoucheva LM, Iqbal Z, Kang S, Kidd JM, Konkel MK, Korn J, Khurana E, Kural D, Lam HY, Leng J, Li R, Li Y, Lin CY, Luo R, Mu XJ, Nemesh J, Peckham HE, Rausch T, Scally A, Shi X, Stromberg MP, Stütz AM, Urban AE, Walker JA, Wu J, Zhang Y, Zhang ZD, Batzer MA, Ding L, Marth GT, McVean G, Sebat J, Snyder M, Wang J, Ye K, Eichler EE, Gerstein MB, Hurles ME, Lee C, McCarroll SA, Korbel JO

Nature. 2011 Feb 3;470(7332):59-65
Gene inactivation and its implications for annotation in the era of personal genomics.
Balasubramanian S, Habegger L, Frankish A, MacArthur DG, Harte R, Tyler-Smith C, Harrow J, Gerstein M

Genes & development. 2011 Jan 1;25(1):1-10
A map of human genome variation from population-scale sequencing.

Nature. 2010 Oct 28;467(7319):1061-73
Diversity of human copy number variation and multicopy genes.
Sudmant PH, Kitzman JO, Antonacci F, Alkan C, Malig M, Tsalenko A, Sampas N, Bruhn L, Shendure J, Eichler EE

Science (New York, N.Y.). 2010 Oct 29;330(6004):641-6
Loss-of-function variants in the genomes of healthy humans.
MacArthur DG, Tyler-Smith C

Human molecular genetics. 2010 Oct 15;19(R2):R125-30
Alpha-actinin-3 deficiency results in reduced glycogen phosphorylase activity and altered calcium handling in skeletal muscle.
Quinlan KG, Seto JT, Turner N, Vandebrouck A, Floetenmeyer M, Macarthur DG, Raftery JM, Lek M, Yang N, Parton RG, Cooney GJ, North KN

Human molecular genetics. 2010 Apr 1;19(7):1335-46
Origins and functional impact of copy number variation in the human genome.
Conrad DF, Pinto D, Redon R, Feuk L, Gokcumen O, Zhang Y, Aerts J, Andrews TD, Barnes C, Campbell P, Fitzgerald T, Hu M, Ihm CH, Kristiansson K, Macarthur DG, Macdonald JR, Onyiah I, Pang AW, Robson S, Stirrups K, Valsesia A, Walter K, Wei J, Tyler-Smith C, Carter NP, Lee C, Scherer SW, Hurles ME

Nature. 2010 Apr 1;464(7289):704-12
Phylogenetic analysis of gene structure and alternative splicing in alpha-actinins.
Lek M, MacArthur DG, Yang N, North KN

Molecular biology and evolution. 2010 Apr;27(4):773-80
Population differentiation as an indicator of recent positive selection in humans: an empirical evaluation.
Xue Y, Zhang X, Huang N, Daly A, Gillson CJ, Macarthur DG, Yngvadottir B, Nica AC, Woodwark C, Chen Y, Conrad DF, Ayub Q, Mehdi SQ, Li P, Tyler-Smith C

Genetics. 2009 Nov;183(3):1065-77
Human Y chromosome base-substitution mutation rate measured by direct sequencing in a deep-rooting pedigree.
Xue Y, Wang Q, Long Q, Ng BL, Swerdlow H, Burton J, Skuce C, Taylor R, Abdellah Z, Zhao Y, MacArthur DG, Quail MA, Carter NP, Yang H, Tyler-Smith C

Current biology : CB. 2009 Sep 15;19(17):1453-7
Biology of Genomes: making sense of sequence.
Macarthur DG

Genome medicine. 2009;1(6):61
The promise and reality of personal genomics.
Yngvadottir B, Macarthur DG, Jin H, Tyler-Smith C

Genome biology. 2009;10(9):237
A gene for speed: contractile properties of isolated whole EDL muscle from an alpha-actinin-3 knockout mouse.
Chan S, Seto JT, MacArthur DG, Yang N, North KN, Head SI

American journal of physiology. Cell physiology. 2008 Oct;295(4):C897-904
An Actn3 knockout mouse provides mechanistic insights into the association between alpha-actinin-3 deficiency and human athletic performance.
MacArthur DG, Seto JT, Chan S, Quinlan KG, Raftery JM, Turner N, Nicholson MD, Kee AJ, Hardeman EC, Gunning PW, Cooney GJ, Head SI, Yang N, North KN

Human molecular genetics. 2008 Apr 15;17(8):1076-86
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN

Neuromuscular disorders : NMD. 2008 Jan;18(1):34-44
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle?
Amsili S, Zer H, Hinderlich S, Krause S, Becker-Cohen M, MacArthur DG, North KN, Mitrani-Rosenbaum S

PloS one. 2008;3(6):e2477
The ACTN3 R577X polymorphism in East and West African athletes.
Yang N, MacArthur DG, Wolde B, Onywera VO, Boit MK, Lau SY, Wilson RH, Scott RA, Pitsiladis YP, North K

Medicine and science in sports and exercise. 2007 Nov;39(11):1985-8
Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.
MacArthur DG, Seto JT, Raftery JM, Quinlan KG, Huttley GA, Hook JW, Lemckert FA, Kee AJ, Edwards MR, Berman Y, Hardeman EC, Gunning PW, Easteal S, Yang N, North KN

Nature genetics. 2007 Oct;39(10):1261-5
ACTN3: A genetic influence on muscle function and athletic performance.
MacArthur DG, North KN

Exercise and sport sciences reviews. 2007 Jan;35(1):30-4
Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks.
Moran CN, Yang N, Bailey ME, Tsiokanos A, Jamurtas A, MacArthur DG, North K, Pitsiladis YP, Wilson RH

European journal of human genetics : EJHG. 2007 Jan;15(1):88-93

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Daniel G MacArthur, Ph.D.

Post Doctoral Fellow

Daniel MacArthur's Genealogy

Daniel MacArthur's Publications (28)