Genome Research, 18(8):1238-46. Science, 306:636-640. Laura Elnitski obtained her B.S. [PubMed], ENCODE Project Consortium, et. She also published a computational assessment of a recurrent synonymous driver mutation identified in melanoma (published in PNAS). Laura Elnitski obtained her B.S. 2015;8:14. In 2013, Dr. Elnitski was awarded the Faculty Mentoring Award at NHGRI. Nature 489: 57-74. in molecular and cellular biology at The Pennsylvania State University (Penn State), with specialty research in chemical engineering. 361-371. She was awarded a Ruth L. Kirschstein National Research Service Award fellowship from the National Institutes of Health for postdoctoral training in the Department of Computer Science and Engineering at Penn State where she focused on the development and interpretation of multispecies genomic alignments to detect conserved regulatory regions. Mol Psychiatry. John Wiley & Sons, 2007. Enter your email address to receive updates about the latest advances in genomics research. Translational and Functional Genomics Branch, Ph.D. Pennsylvania State University, 1998. The functional relevance of somatic synonymous mutations in melanoma and other cancers. 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). Biography. However in 2007, the basic set of genes with this type of regulatory structure, especially noncoding genes, was unknown. Yang, M.Q., and Elnitski, L.L. She serves as a standing member of the Genomics and Computational Biology Study Section of the NIH. 2002. Since that time, Dr. Elnitski's research has pioneered both experimental and computational approaches to discern and validate uncharacterized regulatory components of the human genome. Parker SCJ, Prickett TD Dutton-Regester K, Stitzel ML, Lin JC, Davis S, Simhadri VL, Jha S, Katagiri N, Gotea V, Teer JK, Xiaomu W, Morken MA, Bhanot UK, NISC Comparative Sequencing Program, Chen G, Elnitski LL, Davies MA, Gershenwald JE, Carter H, Karchin R, Robinson W, Robinson S, Rosenberg SA, Francis S. Collins FS, Parmigiani G, Komar AA, Kimchi-Sarfaty C, Hayward N, Margulies EH, and Samuels Y. Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma. The International Chicken Genome Consortium, Hillier, LW, et. 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. Sequence and comparative analysis of the chicken genome provide unique perspectives on vertebrate evolution. Defining functional DNA elements in the human genome. This system is for Government-authorized use only. Her work has identified genomic regions whose epigenetic state is commonly altered in epithelial tumors from 15 distinct types of cancer, providing a promising candidate for a predictive biomarker of disease (published in Epigenetics). 2016. By studying the integrated picture of gene expression, DNA methylation and DNA mutation within a cell, Dr. Elnitski proposes to generate a comprehensive picture for elucidating disease mechanisms that encompasses cause-and-effect events. 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. [PubMed], Petrykowska, H.M, Vockley, C.M., and Elnitski, L. Detection and characterization of silencers and enhancer-blockers in the greater CFTR locus. However in 2007, the basic set of genes with this type of regulatory structure, especially noncoding genes, was unknown. 2015. Bidirectional promoters are now widely accepted as a mechanism of gene regulation. NIAID Outlook users. Kolbe DL, DeLoia JA, Porter-Gill P, Strange M, Guirguis A, Krivak TC, Brody LC, Elnitski L. Genomic analysis of site-specific DNA methylation patterns in primary epithelial ovarian cancers and endometrial metastases to the ovary. [PubMed] Functional analysis of a novel cis-acting regulatory region within the human ankyrin gene (ANK-1) promoter. pp. In ongoing studies, she is pursuing the role of the methylator phenotype in tumors, characterized by extensive methylation of the tumor phenotype. Nature, 432(7018):695-716. The hypothesis of ultraconserved enhancer dispensability overturned. Mapping of these uniquely occurring elements indicated the location of genomic rearrangements between species, and implicated the existence of species-specific transcripts. 2018;19(1):57. With a goal of identifying and characterizing noncoding regulatory elements involved in disease, Dr. Elnitski has been a member of the ENCODE Consortium since 2003, when it was initiated to catalog the content of regulatory regions of the human genome (see ENCODE publications in Science, Nature and PNAS). Neuroanatomic, epigenetic and genetic differences in monozygotic twins discordant for attention deficit hyperactivity disorder. Gotea V, Elnitski L. Ascertaining regions affected by GC-biased gene conversion through weak-to-strong mutational hotspots. Dr. Elnitski has recently published a report on new synonymous mutations in CFTR, the gene responsible for cystic fibrosis, which likely play a role in etiology of the disease (published in Journal of Cystic Fibrosis). Dr. Elnitski's group elucidated this gene collection in several peer-reviewed publications (including PLoS Computational Biology and BMC Genomics and conference papers) showing the widespread and repeated occurrence of this regulatory structure. 2009. 2010. The genome sequence of taurine cattle: a window to ruminant biology and evolution. 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. 2011. Sánchez-Vega F, Gotea V, Petrykowska HM, Margolin G, Krivak TC, DeLoia JA, Bell DW, Elnitski L. (2013) Recurrent patterns of DNA methylation in the ZNF154, CASP8, and VHL promoters across a wide spectrum of human solid epithelial tumors and cancer cell lines. Tumors with the methylator phenotype can be distinguished easily from other subtypes, and often have substantially different prognostic outcomes. 2013. [PubMed], Woolfe A, Mullikin JC, Elnitski L. Genomic features defining exonic variants that modulate splicing. 2014;111(17):6131-8. One of the most intriguing components of gene regulation is the epigenetic code, which influences gene expression from its positioning above the DNA sequence. Yang, M.Q. elnitski@mail.nih.gov. 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. Epigenetics Chromatin, 8:14. 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.

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