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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer Berlin Heidelberg

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DOI

10.1006/jsre.2001.6376

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ISSN

1432-1203

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DUF1220 copy number is linearly associated with in

Authors: Jonathon M Davis Veronica B Searles Nathan Anderson Jonathon Keeney Armin Raznahan L John Horwood David M Fergusson Martin A Kennedy Jay Giedd James M Sikela
Publish Date: 2014/10/07
Volume: 134, Issue: 1, Pages: 67-75
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Abstract

DUF1220 protein domains exhibit the greatest human lineagespecific copy number expansion of any proteincoding sequence in the genome and variation in DUF1220 copy number has been linked to both brain size in humans and brain evolution among primates Given these findings we examined associations between DUF1220 subtypes CON1 and CON2 and cognitive aptitude We identified a linear association between CON2 copy number and cognitive function in two independent populations of European descent In North American males an increase in CON2 copy number corresponded with an increase in WISC IQ R 2 = 013 p = 002 which may be driven by males aged 6–11 R 2 = 042 p = 0003 We utilized ddPCR in a subset as a confirmatory measurement This group had 26–33 copies of CON2 with a mean of 29 and each copy increase of CON2 was associated with a 33point increase in WISC IQ R 2 = 022 p = 0045 In individuals from New Zealand an increase in CON2 copy number was associated with an increase in math aptitude ability R 2 = 010 p = 0018 These were not confounded by brain size To our knowledge this is the first study to report a replicated association between copy number of a gene coding sequence and cognitive aptitude Remarkably dosage variations involving DUF1220 sequences have now been linked to human brain expansion autism severity and cognitive aptitude suggesting that such processes may be genetically and mechanistically interrelated The findings presented here warrant expanded investigations in larger wellcharacterized cohortsFunding for this work was provided by NIH R01 MH081203 JMS Colorado Clinical and Translational Science Institute TL1 TR001081 VBS and a Graduate Assistantship from the Coleman Institute for Cognitive Disabilities JK CHDS was funded by Grants from the Health Research Council of New Zealand the National Child Health Research Foundation the Canterbury Medical Research Foundation the New Zealand Lottery Grants Board the Marsden Fund and the James Hume Bequest Fund We thank Allison Miller for preparation of DNA samples

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