title: Natural variation in human gene expression assessed in lymphoblastoid cells.
abstract: The sequencing of the human genome has resulted in greater attention to genetic variation among individuals, and variation at the DNA sequence level is now being extensively studied. At the same time, it has become possible to study variation at the level of gene expression by various methods. At present, it is largely unknown how widespread this variation in transcript levels is over the entire genome and to what extent individual differences in expression level are genetically determined. In the present study, we used lymphoblastoid cells to examine variation in gene expression and identified genes whose transcript levels differed greatly among unrelated individuals. We also found evidence for familial aggregation of expression phenotype by comparing variation among unrelated individuals, among siblings within families and between monozygotic twins. These observations suggest that there is a genetic contribution to polymorphic variation in the level of gene expression.
authors.affiliation: Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA. vcheung@mail.med.upenn.edu
authors.forename: Vivian G
authors.initials: VG
authors.lastname: Cheung
authors.forename: Laura K
authors.initials: LK
authors.lastname: Conlin
authors.forename: Teresa M
authors.initials: TM
authors.lastname: Weber
authors.forename: Melissa
authors.initials: M
authors.lastname: Arcaro
authors.forename: Kuang-Yu
authors.initials: KY
authors.lastname: Jen
authors.forename: Michael
authors.initials: M
authors.lastname: Morley
authors.forename: Richard S
authors.initials: RS
authors.lastname: Spielman
mesh_terms: D005260:Female; D015870:Gene Expression; D020869:Gene Expression Profiling; D014644:Genetic Variation; D006801:Humans; D008214:Lymphocytes / Q000378:metabolism*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D014430:Twins, Monozygotic / Q000235:genetics