 |
|
Division of Intramural Research
|
Overview |
|
Vision, Mission and Values |
|
Organizational Chart |
|
Research Branches
|
|
Research Investigators
Profiles, publications, links |
|
Clinical Research
Clinical trials, patient recruitment, IRB, FAQ, Overview |
|
NHGRI Affiliated Centers
CIDR, NCGC, NISC
|
|
Online Research Resources Developed at NHGRI
Databases, software, tools, more. |
|
Division of Intramural Research Calendar
Workshops, conferences, seminar series, courses, more. |
|
Books and Publications |
|
|
|
In Other Sections:
|
|
 |
|
 |
 |
Laura Elnitski, Ph.D.
Investigator
Genome Technology Branch
Head
Genomic Functional Analysis Section
B.S. Pennsylvania State University, 1991
Ph.D. Pennsylvania State University, 1998
|
|
Dr. Elnitski is a molecular and computational biologist who uses experimental
and bioinformatic methods to discover noncoding functional elements in the human
genome. Genes, which are the functional elements that encode proteins, make up
only about 2 percent of the human genome; other functional elements - such as
promoters, enhancers, repressors, and RNA splicing signals - have important biological
roles, particularly in regulating temporal and spatial patterns of gene expression.
Still in its infancy, the science of identifying and understanding these noncoding
functional elements is crucial to giving a full understanding of the human genome.
Dr. Elnitski uses sequence conservation among species as a guide to finding functional
elements. Cross-species comparisons enable scientists to zero in on those sequences
that have been highly constrained to remain the same throughout evolution, often
reflecting the most functionally important regions in the genome. Dr. Elnitski
develops computational approaches that discriminate regulatory regions (i.e.,
regions that control gene expression) from those that are neutrally evolving (i.e.,
regions that are not under selection to remain the same). Researchers can use
these approaches to investigate the regulatory regions influencing the expression
of selected genes.
In addition, she is investigating less well-characterized functional elements
in the human genome. In one project, she is looking at how exonic splicing enhancers
(ESEs) correlate with alternative splicing patterns in multispecies sequence
alignments. ESEs are short sequences present in most mammalian exons, and they
influence the process of RNA splicing, in which introns are removed from a primary
transcript and exons are joined to produce a mature transcript. They also influence
the selection of correct splice sites (or signals) located at the boundaries
between exons and introns during precursor messenger RNA (mRNA) editing. The
correct choice is essential not only for the production of proteins containing
the correct exons but also for alternative splicing choices - such as exon skipping
- that occur in specialized tissues or at different developmental stages. As
part of this project, Dr. Elnitski seeks to investigate the role of ESEs in
unnatural exon skipping and the link with several cancers and inherited diseases
in humans - for instance, in genetic mutations in BRCA1 associated with breast
cancer and in CFTR associated with cystic fibrosis. For this, she will analyze
human mutations that fall within predicted ESEs and result in improper splicing.
Dr. Elnitski also is examining small, noncoding RNA sequences, known as micro-RNAs.
These short sequences measure only about 100 bases and function by interfering
with gene expression. They are involved in some neural development pathways
and have been implicated in cancer. Although regulatory in nature, they act
differently from promoters and enhancers by exerting regulatory activity after
an mRNA is produced. Dr. Elnitski has selected the chicken sequence for this
project, because the evolutionary distance to humans is sufficiently far that
nonfunctional regions share very little sequence similarity. Using characterized
micro-RNAs in humans, she will assess patterns of similarity in chickens to
develop a pipeline for testing all conserved regions in human-chicken sequence
alignments. She expects this approach to reveal new insights about micro-RNAs
that complement our current knowledge.
Finally, Dr. Elnitski is extensively involved in the National Human Genome
Research Institute's ENCODE (Encyclopedia of DNA Elements) Project, which eventually
will produce a comprehensive catalogue of elements in the human genome, starting
with a pilot focusing on 1 percent of the genome. She is particularly interested
in developing a database for querying and storing functional data generated
by analyses performed with multiple species.
Last Updated: August 1, 2008
|
|
|
Other Genome Technology Branch Investigators
|
|
 |
|
Christopher P. Austin, M.D.
Andy Baxevanis, Ph.D.
Robert W. Blakesley, Ph.D.
Gerard Bouffard, Ph.D.
Lawrence C. Brody, Ph.D.
Shawn Burgess, Ph.D.
Settara C. Chandrasekharappa, Ph.D.
Eric D. Green, M.D., Ph.D.
James Inglese, Ph.D.
Elliott Margulies, Ph.D.
James C. Mullikin, Ph.D.
Elizabeth G. Nabel, M.D.
Tyra Wolfsberg, Ph.D.
|
|
|
|
|
|
Copyright
(301) 451-0265
(301) 435-6170
Print Version