Heritable Individual-Specific and Allele-Specific Chromatin Signatures in Humans

• Published in: Science (American Association for the Advancement of Science) Vol. 328; no. 5975; pp. 235 - 239
• Main Authors: McDaniell, Ryan, Lee, Bum-Kyu, Song, Lingyun, Liu, Zheng, Boyle, Alan P., Erdos, Michael R., Scott, Laura J., Morken, Mario A., Kucera, Katerina S., Battenhouse, Anna, Keefe, Damian, Collins, Francis S., Willard, Huntington F., Lieb, Jason D., Furey, Terrence S., Crawford, Gregory E., lyer, Vishwanath R., Birney, Ewan
• Format: Journal Article
• Language: English
• Published: Washington, DC American Association for the Advancement of Science 09.04.2010; The American Association for the Advancement of Science
• Subjects: African Continental Ancestry Group; Alleles; Binding Sites; Biological and medical sciences; CCCTC-Binding Factor; Cell Line; Cellular biology; Children; Chromatin; Chromatin - chemistry; Chromatin - genetics; Chromatin - metabolism; Chromatin Immunoprecipitation; Chromatin. Chromosome; Chromosomes, Human - genetics; Chromosomes, Human - metabolism; Chromosomes, Human, X - genetics; Chromosomes, Human, X - metabolism; Deoxyribonuclease I - metabolism; Epigenetics; European Continental Ancestry Group; Female; Fundamental and applied biological sciences. Psychology; Gene expression; Gene Expression Regulation; Genes; Genetic diversity; Genetic Variation; Genomes; Genotype & phenotype; Heredity; Humans; Male; Medical genetics; Molecular and cellular biology; Molecular genetics; Nuclear Family; Polymorphism, Single Nucleotide; Protein Binding; Regulatory Elements, Transcriptional; Repressor Proteins - metabolism; Sequence Analysis, DNA; Transcription factors; Transcription Factors - metabolism; X Chromosome Inactivation; Human; Chromosome; Allele; Chromatin; Individual
• ISSN: 0036-8075; 1095-9203
• DOI: 10.1126/science.1184655

The extent to which variation in chromatin structure and transcription factor binding may influence gene expression, and thus underlie or contribute to variation in phenotype, is unknown. To address this question, we cataloged both individual-to-individual variation and differences between homologous chromosomes within the same individual (allele-specific variation) in chromatin structure and transcription factor binding in lymphoblastoid cells derived from individuals of geographically diverse ancestry. Ten percent of active chromatin sites were individual-specific; a similar proportion were allele-specific. Both individual-specific and allele-specific sites were commonly transmitted from parent to child, which suggests that they are heritable features of the human genome. Our study shows that heritable chromatin status and transcription factor binding differ as a result of genetic variation and may underlie phenotypic variation in humans.