Page 81 - ASHG 2012 Annual Meeting Program Guide

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INVITED AND PLATFORM SESSIONS
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Wednesday, November 7
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-10)
SESSION 5 – Gene Regulatory Change: The Engine of
Human Evolution?
Room 135, Lower Level North, Moscone Center
Moderators
:
James P. Noonan, Yale Univ. Sch. of
Med.; Nadav Ahituv, UCSF
What makes us human? Classic human traits, such as
language and sophisticated tool use, are the result of
physical changes during human evolution, including
increased brain complexity and altered limb
morphology. This session will focus on efforts to
identify evolutionary changes in gene regulation that
produced uniquely human phenotypes. Speakers will
describe novel approaches that are empowering
research in this emerging field, and the insights that
are being gained. Topics to be discussed include: 1)
Computational identification of putative gene
regulatory elements that changed extensively during
human evolution; 2) The role of repetitive elements in
generating novel regulatory functions; 3) Human-
specific loss of developmental regulatory elements;
4)
New methods to link phenotypic and genotypic
variation across closely related species, and the
implications for understanding human-specific
biology and disease; and 5) Identifying human-
specific developmental regulatory changes by
direct comparisons of enhancer function and gene
expression in embryonic human and nonhuman
primate tissues using functional genomics. The
session will illustrate how the synthesis of diverse
computational and experimental approaches is
beginning to reveal the genetic basis of unique human
biology.
8:00
AM
Chromatin profiling of human embryonic
tissues identifies regulatory elements with human-
specific developmental functions.
J. P. Noonan. Yale
Univ. Sch. of Med.
8:25
AM
Many human accelerated regions are
developmental enhancers.
K. S. Pollard. UCSF.
8:50
AM
Linking human and mammalian
genotypes to phenotype.
G. Bejerano. Stanford Univ.
9:15
AM
The role of repetitive elements in driving
human and mammalian genome regulation.
D.
Odom. Cancer Research UK, Cambridge, U.K.
9:40
AM
Evidence of regulatory turnover in the
human lineage revealed by comparing mammalian
constraint, human diversity, and biochemical
activity.
M. Kellis. MIT.
Wednesday, November 7
8:00
AM
–10:00
AM
Concurrent Invited Session I (3-10)
SESSION 6 – Insights into Human Demography and
Selection from Full Genome Sequencing
Room 134, Lower Level North, Moscone Center
Moderators
:
Jeffrey M. Kidd, Univ. of Michigan; Carlos
D. Bustamante, Stanford Univ.
Next-generation sequencing allows geneticists to
directly test the extent and pattern of natural selection
in the human genome. These new genomic data
address previous concerns of ascertainment bias and
accurate identification of causal alleles. Recently,
population geneticists have proposed multiple, strong
positive sweeps related to diet and immune defense,
pervasive negative selection in and nearby genes, and
adaptation by allele frequency shifts from standing
variation. The proportion of the human genome
attributable to these different patterns is currently
under intense debate. Furthermore, selection is
operating on the background of complex human
demography, such as long-range continental
migrations and population-specific bottlenecks. This
symposium aims to provide diverse viewpoints on the
different modes of selection operating on the human
genome and a discussion of how demographic
processes may have constrained evolution in both
recent and ancient human history.
8:00
AM
The effect of out-of-Africa migrations on
the distribution of deleterious alleles in diverse
human genomes.
B. M. Henn. Stanford Univ.
8:30
AM
Genetic adaptations to new
environments in humans.
A. Di Rienzo. Univ. of
Chicago.
9:00
AM
Insights into selective sweeps and
diversity from thousands of sequenced genomes.
R. Hernandez. UCSF.
9:30
AM
A genomic view of the demographic and
adaptive history of African pygmies.
L. Quintana-
Murci. Inst. Pasteur, Paris, France.