perspective: Rare gene variants linked to ADHD, autism

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Normal CNVs seem different from de novo CNVs.

Origins and functional impact of copy number variation in the human

genome. <http://www.ncbi.nlm.nih.gov/pubmed/19812545>

Conrad DF et al

Nature. 2010 Apr 1;464(7289):704-12.

Structural variations of DNA greater than 1 kilobase in size account for

most bases that vary among human genomes, but are still relatively

under-ascertained. Here we use tiling oligonucleotide microarrays,

comprising 42 million probes, to generate a comprehensive map of 11,700

copy number variations (CNVs) greater than 443 base pairs, of which most

(8,599) have been validated independently. For 4,978 of these CNVs, we

generated reference genotypes from 450 individuals of European, African

or East Asian ancestry. The predominant mutational mechanisms differ

among CNV size classes. Retrotransposition has duplicated and inserted

some coding and non-coding DNA segments randomly around the genome.

Furthermore, by correlation with known trait-associated single

nucleotide polymorphisms (SNPs), we identified 30 loci with CNVs that

are candidates for influencing disease susceptibility. Despite this,

having assessed the completeness of our map and the patterns of linkage

disequilibrium between CNVs and SNPs, */we conclude that, for complex

traits, the heritability void left by genome-wide association studies

will not be accounted for by common CNVs./*

> Social responsiveness scale-aided analysis of the clinical impact of

> copy number variations in autism.

> <http://www.ncbi.nlm.nih.gov/pubmed/21837366>

> van Daalen E, Kemner C, Verbeek NE, van der Zwaag B, Dijkhuizen T,

> Rump P, Houben R, van 't Slot R, de Jonge MV, Staal WG, Beemer FA,

> Vorstman JA, Burbach JP, van Amstel HK, Hochstenbach R, Brilstra EH,

> Poot M.

> Neurogenetics. 2011 Aug 12.

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> Rare de novo and transmitted copy-number variation in autistic

> spectrum disorders. <http://www.ncbi.nlm.nih.gov/pubmed/21658582> Levy

> D, Ronemus M, Yamrom B, Lee YH, Leotta A, Kendall J, Marks S, Lakshmi

> B, Pai D, Ye K, Buja A, Krieger A, Yoon S, Troge J, Rodgers L,

> Iossifov I, Wigler M.

> Neuron. 2011 Jun 9;70(5):886-97

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