Show simple item record

dc.contributor.authorBarrera, Luis A.en_US
dc.contributor.authorVedenko, Anastasiaen_US
dc.contributor.authorKurland, Jesse V.en_US
dc.contributor.authorRogers, Julia M.en_US
dc.contributor.authorGisselbrecht, Stephen S.en_US
dc.contributor.authorRossin, Elizabeth J.en_US
dc.contributor.authorWoodard, Jaieen_US
dc.contributor.authorMariani, Lucaen_US
dc.contributor.authorKock, Kian Hongen_US
dc.contributor.authorInukai, Sachien_US
dc.contributor.authorSiggers, Trevoren_US
dc.contributor.authorShokri, Leilaen_US
dc.contributor.authorGordan, Raluxaen_US
dc.contributor.authorSahni, Nidhien_US
dc.contributor.authorCotsapas, Chrisen_US
dc.contributor.authorHao, Tongen_US
dc.contributor.authorYi, Songen_US
dc.contributor.authorKellis, Manolisen_US
dc.contributor.authorDaly, Mark J.en_US
dc.contributor.authorVidal, Marcen_US
dc.contributor.authorHill, David E.en_US
dc.contributor.authorBulyk, Martha L.en_US
dc.date.accessioned2018-05-01T17:34:22Z
dc.date.available2018-05-01T17:34:22Z
dc.date.issued2016-03-25
dc.identifier.citationL. A. Barrera, A. Vedenko, J. V. Kurland, J. M. Rogers, S. S. Gisselbrecht, E. J. Rossin, J. Woodard, L. Mariani, K. H. Kock, S. Inukai, T. Siggers, L. Shokri, R. Gordan, N. Sahni, C. Cotsapas, T. Hao, S. Yi, M. Kellis, M. J. Daly, M. Vidal, D. E. Hill, M. L. Bulyk. 2016. "Survey of variation in human transcription factors reveals prevalent DNA binding changes." Science, Volume 351, Issue 6280, pp. 1450 - 1454.
dc.identifier.issn0036-8075
dc.identifier.issn1095-9203
dc.identifier.urihttps://hdl.handle.net/2144/28811
dc.descriptionPublished in final edited form as: Science. 2016 Mar 25; 351(6280): 1450–1454. Published online 2016 Mar 24. doi: 10.1126/science.aad2257en_US
dc.description.abstractSequencing of exomes and genomes has revealed abundant genetic variation affecting the coding sequences of human transcription factors (TFs), but the consequences of such variation remain largely unexplored. We developed a computational, structure-based approach to evaluate TF variants for their impact on DNA binding activity and used universal protein-binding microarrays to assay sequence-specific DNA binding activity across 41 reference and 117 variant alleles found in individuals of diverse ancestries and families with Mendelian diseases. We found 77 variants in 28 genes that affect DNA binding affinity or specificity and identified thousands of rare alleles likely to alter the DNA binding activity of human sequence-specific TFs. Our results suggest that most individuals have unique repertoires of TF DNA binding activities, which may contribute to phenotypic variation.en_US
dc.description.sponsorshipNational Institutes of Health; NHGRI R01 HG003985; P50 HG004233; A*STAR National Science Scholarship; National Science Foundationen_US
dc.format.extent1450 - 1454en_US
dc.relation.ispartofScience
dc.subjectExome sequencingen_US
dc.subjectMendelian diseaseen_US
dc.subjectTranscription factorsen_US
dc.subjectHumansen_US
dc.subjectSingle nucleotide polymorphismsen_US
dc.titleSurvey of variation in human transcription factors reveals prevalent DNA binding changesen_US
dc.typeArticleen_US
dc.identifier.doi10.1126/science.aad2257
pubs.elements-sourcecrossrefen_US
pubs.notesEmbargo: Not knownen_US
pubs.organisational-groupBoston Universityen_US
pubs.organisational-groupBoston University, College of Arts & Sciencesen_US
pubs.organisational-groupBoston University, College of Arts & Sciences, Department of Biologyen_US
pubs.publication-statusPublisheden_US
dc.date.online2016-03-24
dc.date.online2016-03-24


This item appears in the following Collection(s)

Show simple item record