Journal
AMERICAN JOURNAL OF HUMAN GENETICS
Volume 82, Issue 3, Pages 763-771Publisher
CELL PRESS
DOI: 10.1016/j.ajhg.2007.12.011
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Funding
- NHLBI NIH HHS [T32 HL072757, 5T32HL072757-04] Funding Source: Medline
- NIDDK NIH HHS [3P30DK056336-05S2, P30 DK056336] Funding Source: Medline
- NIEHS NIH HHS [R01 ES010758, 5R01ES009912-08, R01 ES009912, ES10758] Funding Source: Medline
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The exploration of copy-number variation (CNV), notably of somatic cells, is an understudied aspect of genome biology. Any differences in the genetic makeup between twins derived from the same zygote represent an irrefutable example of somatic mosaicism. We studied 19 pairs of monozygotic twins with either concordant or discordant phenotype by using two platforms for genome-wide CNV analyses and showed that CNVs exist within pairs in both groups. These findings have an impact on our views of genotypic and phenotypic diversity in monozygotic twins and suggest that CNV analysis in phenotypically discordant monozygotic twins may provide a powerful tool for identifying disease-predisposition loci. Our results also imply that caution should be exercised when interpreting disease causality of de novo CNVs found in patients based on analysis of a single tissue in routine disease-related DNA diagnostics.
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