Our research on archaic gene regulation is on
! A narration accompanied by whiteboard animation.
HUJI researchers had participated in a cooking
event, with the chef Anat Lesem from Sartaki at the Mahane Yehuda market. We got to do the molecular
Our lab received the
ICRF Acceleration Grant
with Prof. Ruth Sperling. The focus of the project is to study the role of nuclear microRNA,
and fragments thereof, in cancer.
Liran Carmel gave a talk at the
Guarujį, Brazil. The talk was part of an invited symposium, sponsored by the
New paper in the
Journal of Medical Genetics
, describing a work done jointly with Ephrat Levy-Lahad and David Zangen
from Shaare Zedek Medical Center.
A. Weinberg-Shukron, A. Abu-Libdeh, F. Zahdeh, L. Carmel, A. Kogot-Levin, L. Kamal, M. Kanaan, S. Zeligson,
P. Renbaum, E. Levy-Lahad and D. Zangen, Combined mineralocorticoid and glucocorticoid deficiency is caused by a
novel founder nicotinamide nucleotide transhydrogenase mutation that alters mitochondrial morphology and increases
oxidative stress, Journal of Medical Genetics (2015).
In this work, we have been looking at whole exomes of a family with combined mineralocorticoid and glucocorticoid
deficiency, and identified the causative mutation in the NNT gene. See
for more details.
Our lab deals with a host of topics in the general fields of molecular evolution
Among the topics that are currently actively pursued are:
- Recent human evolution. Recent advances in ancient DNA sequencing yielded complete high-coverage
genomes of the Neandertal and the Denisovan. We devise algorithms that predict the DNA methylation along
ancient DNA, and identifies genes that are differently activated in present-day humans.
- Gene architecture. We study conservation of gene architecture by means of intronic positional
conservation. This is an extension of the more "standard" sequence and structure evolutionary
conservation modes. We are interested in the quantification of this conservation, and in studying its
implication on our understanding of intronic functions.
We also study the evolutionary forces that have led to the wealth of gene architectures seen across the
eukaryotic domain. This includes the identification of evolutionary trends, and the study of mechanisms
of intron gain and loss.
- Splicing. We study the functional roles of splicing in general, and of alternative splicing in
particular. We develop a tool to estimate the effect of splicing on normal splicing patterns, and its
connection to human diseases.
- Massive parallel sequencing. We are involved in a number of projects that involve the analysis
of next-generation sequencing data. Among these are identifying human disease-causing
mutations, and studying the mutational spectrum of meiosis in yeast. We mainly
use resequencing and RNA-seq analysis.
- Nonsense mediated decay (NMD). We are interested in the mechanism that recognizes a premature
termination codon in mammals, and its relationship with introns in the 3'UTR.
- Phylogenetics. We are interested in various aspects of rooting phylogenetic trees.
- Systems biology. We characterize the dynamics of gene architecture in individual genes,
and are interested in studying the connections between this dynamics and other genic features.
- Multivariate data analysis. My lab is also active in some fields of applied mathematics:
multivariate analysis, statistical pattern recognition, data visualization, and machine learning.