She received an Outstanding Research Achievement Award at the International Symposium on Bioinformatics, Research and Applications, Harvard University in 2007, and was selected for a Genome Technology International Young Investigator Award in 2009. 2015;8:14. al., including Elnitski L. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Research Topics. Furthering the complexity of regulated gene expression, transcriptional splicing is an intricate and delicate process wherein mistakes can cause devastating diseases. She serves as a standing member of the Genomics and Computational Biology Study Section of the NIH. BMC Bioinformatics Suppl. Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter. Tumors with the methylator phenotype can be distinguished easily from other subtypes, and often have substantially different prognostic outcomes. DNA Repair / Book 4, Inna Kruman (Ed. 2008. By recognizing that splicing signals are mechanistically robust and utilize a set of common functional elements, Dr. Elnitski's group developed a new tool for elucidating unannotated splicing elements. For example, to address the delicate interplay of silencing elements in regulating active gene expression, Dr. Elnitski developed a system to detect these elements in human sequences. One of the most intriguing components of gene regulation is the epigenetic code, which influences gene expression from its positioning above the DNA sequence. 2014. PLoS Biol, 9:e1001046. In 2013, Dr. Elnitski was awarded the Faculty Mentoring Award at NHGRI. [PubMed], ENCODE Project Consortium, et. Contact Information. Laura Elnitski obtained her B.S. [PubMed], Petrykowska, H.M, Vockley, C.M., and Elnitski, L. Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus. Kellis M, Wold B, Snyder MP, Bernstein BE, Kundaje A, Marinov GK, Ward LD, Birney E, Crawford GE, Dekker J, Dunham I, Elnitski LL, Farnham PJ, Feingold EA, Gerstein M, Giddings MC, Gilbert DM, Gingeras TR, Green ED, Guigo R, Hubbard T, Kent J, Lieb JD, Myers RM, Pazin MJ, Ren B, Stamatoyannopoulos JA, Weng Z, White KP, Hardison RC. Margolin G, Petrykowska HM, Jameel N, Bell DW, Young AC, Elnitski L. Robust Detection of DNA Hypermethylation of ZNF154 as a Pan-Cancer Locus with in Silico Modeling for Blood-Based Diagnostic Development. She received an Outstanding Research Achievement Award at the International Symposium on Bioinformatics, Research and Applications, Harvard University in 2007, and was selected for a Genome Technology International Young Investigator Award in 2009. 2007. Genome Res, 15:1451-5. The hypothesis of ultraconserved enhancer dispensability overturned. [PubMed] 2009. Scott, A, Petrykowska HM, Gotea V, Hefferon T, Elnitski L. Functional analysis of synonymous substitutions predicted to affect splicing of the CFTR gene. She obtained a Ph.D. in biochemistry and molecular biology, also at Penn State, while pursuing one of the first projects to look at multi-species comparisons of noncoding regulatory elements. The project addresses whether these tumors recapitulate the human phenotype, in which case they should show extensive aberrant DNA methylation. In ongoing studies, she is pursuing the role of the methylator phenotype in tumors, characterized by extensive methylation of the tumor phenotype. including Elnitski L. The genome sequence of taurine cattle: a window to ruminant biology and evolution. The completion of the Human Genome Project was a pivotal step toward comprehensive annotation of genomic content, and opened the door for intensive studies of elusive functional elements. NIAID Outlook users. The project addresses whether these tumors recapitulate the human phenotype, in which case they should show extensive aberrant DNA methylation. 218-228. Moreover, by mapping these regulatory elements across five genomes, she and her group showed that bidirectional promoters are a basic regulatory component in mammalian transcriptional control, and that many bidirectional promoters are specific to a single species. Pan-cancer stratification of solid human epithelial tumors and cancer cell lines reveals commonalities and tissue-specific features of the CpG island methylator phenotype. ), InTech Publishers. Genome Biol. From this perspective, the group identified all such promoter regions that were unique to the human genome compared to other sequenced mammalian genomes and identified over 1,000 candidate human-specific genes (published in PLoS ONE). [PubMed] These research projects are geared toward identifying and understanding regulatory mechanisms in a cell that could not be comprehensively addressed before the sequencing of the human genome. [PUbMed] Proc Natl Acad Sci, 111:6131-8. [PubMed], Woolfe A, Mullikin JC, Elnitski L. Genomic features defining exonic variants that modulate splicing. including Elnitski, L. A user's guide to the encyclopedia of DNA elements (ENCODE). Enter your email address to receive updates about the latest advances in genomics research. Dr. Elnitski joined the National Human Genome Research Institute in 2005 as a tenure track investigator. All NIH users are PRE-registered to RECEIVE deliveries via this service. These tools emerged in time to support a new genomic paradigm, in which synonymous substitutions are increasingly recognized as disruptive events in regulated splicing scenarios. Bidirectional promoters are now widely accepted as a mechanism of gene regulation. Locating mammalian transcription factor binding sites: A survey of computational and experimental techniques. The results were the first to show that negative-acting elements could be studied on a large scale in an efficient assay system (published in Genome Research). Biography. [PubMed], Giardine, B., Riemer, C., Hardison, R.C., Burhans, R., Elnitski, L., Shah, P., Zhang, Y., Blankenberg, D., Albert, I., Taylor, J., Miller, W., Kent, W.J., Nekrutenko, A. Galaxy: a platform for interactive large-scale genome analysis. However in 2007, the basic set of genes with this type of regulatory structure, especially noncoding genes, was unknown. Defining functional DNA elements in the human genome. 2014. 2009. Web Access to Email NIH Central Exchange users. Do not use: username@mail.nih.gov Do not use: NIH\\username or HRSA\\username Do not use: username@ic.nih.gov You are accessing a U.S. Government information system which includes this computer, network, and all attached devices. Feature Characterization and Testing of Bidirectional Promoters in the Human Genome - Significance and Applications in Human Genome Research. Mapping of these uniquely occurring elements indicated the location of genomic rearrangements between species, and implicated the existence of species-specific transcripts. Waterston RH, et al., including Elnitski L. Initial sequencing and comparative analysis of the mouse genome. Robust Detection of DNA Hypermethylation of ZNF154 as a Pan-Cancer Locus with in Silico Modeling for Blood-Based Diagnostic Development. Her work specializes in developing tools to identify and discern the mechanistic action of functional elements in the human genome, including promoters, enhancers, silencers, splicing elements and epigenetic regulators. For example, one project in the lab examines the DNA methylation patterns in two versions of human endometrioid ovarian tumors, carrying PTEN-/- and APC-/- mutations or PTEN-/- APC-/- and ARID1A-/- mutations. 2004. Arabnia, Yang, M.Q. J Mol Diagn, (15)00274-3. Bioinformatics Research and Applications, Zhang, Y., eds, Heidelberg, pp. For example, one project in the lab examines the DNA methylation patterns in two versions of human endometrioid ovarian tumors, carrying PTEN-/- and APC-/- mutations or PTEN-/- APC-/- and ARID1A-/- mutations.