Justin L. Cotney, Ph.D.Associate Professor, Genetics and Genome Sciences
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- Education & Training
- Committees & Organizations
- Research
- Research Opportunities
- Lab Rotations
- Publications
- Presentations
Degree | Institution | Major |
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BS | Birmingham Southern College | Biology |
PhD | Emory University | Genetics & Molecular Biology |
Post-Graduate Training
Training | Institution | Specialty |
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Postdoctoral | Yale University | Postdoctoral Fellow - Snyder Laboratory |
Postdoctoral | Yale University School of Medicine | Postdoctoral Fellow - Noonan Laboratory |
Awards
Name of Award/Honor | Awarding Organization |
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Marylou Buyse Distinguished Scientist in Craniofacial Research Award | Society for Craniofacial Genetics & Developmental Biology |
Rudolph J. Anderson Fellow | Yale University |
Name & Description | Category | Role | Type | Scope | Start Year | End Year |
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Research Advisory Board of Shriners Hospitals for Children | Advisory Committee | Member | External | National | 2018 | 2023 |
Genetics and Developmental Biology Area of Concentration | Assistant Director | UConn Health | University | 2018 | ||
Graduate Student Admission Committee | Community Service | Member | UConn Health | University | 2018 | 2020 |
American Society for Human Genetics | Professional/Scientific Organization | External | National | 2014 | ||
Society of Craniofacial Genetics and Developmental Biology | Professional/Scientific Organization | External | National | 2013 | ||
American Association for the Advancement of Science | Professional/Scientific Organization | External | National | 2002 | ||
NIH Genetics of Health and Disease Study Section | Study Section | Reviewer | External | National |
The Cotney Lab is interested in determining how gene regulatory elements, namely enhancers, control gene expression during mammalian development. We aim to understand how new gene regulatory functions evolve, to identify mechanisms of enhancer function over large genomic distances, and globally identify variants of enhancer sequences that are associated with human disease.
Postdoctoral Positions
Postdoctoral positions in comparative functional genomics for both experienced molecular biologists and computational biologists are available in the Cotney Lab within the Department of Genetics and Genome Sciences and the Institute for Systems Genomics at UConn Health . Our laboratory is applying functional genomics techniques (ChIP-Seq, RNA-Seq, ChIA-PET, Hi-C, etc) to identify novel gene regulatory elements in early mammalian embryonic development. We seek to understand the genetic basis of the evolution of the human form and developmental disorders by integrating multiple types of functional genomics data from a variety of tissues and species.
We seek molecular biologists with a variety of experimental experience including:
- General tissue culture techniques, including culturing of human and mouse cell lines, primary cells, embryonic stem cells and iPS.
- Transient and stable cell transfection, virus-based infection.
- RNAi-based knockdown and vector mediated ectopic expression, markerbased positive clone selection.
- Cell-based assays to evaluate viability.
- Protein analysis by western blotting, enzymatic assays.
- DNA/RNA sequencing
- Chromatin immunoprecipitation
- Genome editing (CRISPR)
- Enhancer screens and activity measurement
We seek computational biologists with experience related to functional genomics:
- Scripting languages such as Python, Perl, or Awk
- Statistical packages such as R or Matlab
- Next generation sequencing data such as ChIP-Seq, RNA-Seq, etc.
- Statistical genetics including GWAS and 1000 Genomes data sets.
- Comparative genomics such as multi-species alignments and conservation analysis.
- Visualization of genomic data including Circos, IGV, UCSC Genome browser.
- 3D Modeling or experience with game development
The ideal candidate would have a mixture of both experimental and computational skills.
Accepting Lab Rotation Students: Summer 2022, Fall 2022, and Spring 2023
We will be accepting graduate students from the Genetics and Developmental Biology Graduate program and professional students from the Schools of Medicine and Dentistry for rotations. Please inquire for possible projects.
Journal Articles
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Ube3a unsilencer for the potential treatment of Angelman syndrome.
Nature communications 2024 Jul;15(1):5558
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Spatial Multi-omics Reveals the Role of the Wnt Modulator, Dkk2, in Palatogenesis'.
Journal of dental research 2024 Jun;220345241256600
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Rare variants analyses suggest novel cleft genes in the African population.
Scientific reports 2024 Jun;14(1):14279
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Massively parallel disruption of enhancers active in human neural stem cells.
Cell reports 2024 Jan;43(2):113693
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CRISPR Activation Reverses Haploinsufficiency and Functional Deficits Caused by TTN Truncation Variants.
Circulation 2024 Jan;
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A distant global control region is essential for normal expression of anterior HOXA genes during mouse and human craniofacial development.
Nature communications 2024 Jan;15(1):136
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Identifying key underlying regulatory networks and predicting targets of orphan C/D box SNORD116 snoRNAs in Prader-Willi syndrome.
bioRxiv : the preprint server for biology 2023 Oct;
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Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes.
Human genetics 2023 Oct;142(10):1531-1541
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Multimodal spatiotemporal transcriptomic resolution of embryonic palate osteogenesis.
Nature communications 2023 Sep;14(1):5687
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Generation of isogenic models of Angelman syndrome and Prader-Willi syndrome in CRISPR/Cas9-engineered human embryonic stem cells.
bioRxiv : the preprint server for biology 2023 Aug;
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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes.
Nature communications 2023 Aug;14(1):4623
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Integration of multimodal data in the developing tooth reveals candidate regulatory loci driving human odontogenic phenotypes
Frontiers in Dental Medicine 2022 Nov;
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Zebrafish models of Alx-linked frontonasal dysplasia reveal a role for Alx1 and Alx3 in the anterior segment and vasculature of the developing eye.
Biology open 2022 Feb;
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Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate.
HGG advances 2021 Jul;
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Sarcomere function activates a p53-dependent DNA damage response that promotes polyploidization and limits in vivo cell engraftment.
Cell reports 2021 May;35(5):109088
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A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
Science advances 2021 Feb;7(6):
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Massively parallel discovery of human-specific substitutions that alter enhancer activity.
Proceedings of the National Academy of Sciences of the United States of America 2021 Jan;118(2):
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An Irf6-Esrp1/2 regulatory axis controls midface morphogenesis in vertebrates.
Development (Cambridge, England) 2020 Dec;147(24):
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Specific ZNF274 binding interference at SNORD116 activates the maternal transcripts in Prader-Willi syndrome neurons.
Human molecular genetics 2020 Sep;
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ALX1-related frontonasal dysplasia results from defective neural crest cell development and migration.
EMBO molecular medicine 2020 Sep;e12013
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Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis.
Circulation research 2020 Aug;
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Investigating global gene expression changes in a murine model of cherubism.
Bone 2020 Mar;135115315
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Integrative approaches reveal insights into the architecture of facial clefting
Submitted 2020 Feb;
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Epigenomic and transcriptomic dynamics identify coordinated networks of genes and cardiac disease relevant loci during human heart organogenesis
In Revision at Circulation Research 2019 Dec;
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Massively parallel disruption of enhancers active during human corticogenesis
Under Review at Nature Neuroscience 2019 Dec;
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Massively parallel discovery of human-specific substitutions that alter neurodevelopmental enhancer activity
Under review at eLife 2019 Nov;
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Single-cell analysis of human cardiomyocyte polyploidization reveals that sarcomere assembly regulates endocycling through CCNB1 inhibition.
Under Review 2019 Oct;
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Evidence against tetrapod-wide digit identities and for a limited frame shift in bird wings.
Nature communications 2019 Jul;10(1):3244
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A bipartite boundary element restricts UBE3A imprinting to mature neurons.
Proceedings of the National Academy of Sciences of the United States of America 2019 Jan;
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Marked Diversity of Unique Cortical Enhancers Enables Neuron-Specific Tools by Enhancer-Driven Gene Expression.
Current biology : CB 2018 Jul;28(13):2103-2114.e5
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High-Resolution Epigenomic Atlas of Human Embryonic Craniofacial Development.
Cell reports 2018 May;23(5):1581-1597
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Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Molecular genetics & genomic medicine 2018 Mar;6171-185
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Multi-focal control of mitochondrial gene expression by oncogenic MYC provides potential therapeutic targets in cancer.
Oncotarget 2016 Aug;772395-72414
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Chromatin immunoprecipitation with fixed animal tissues and preparation for high-throughput sequencing.
Cold Spring Harbor protocols 2015 Apr;2015(4):419
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The autism-associated chromatin modifier CHD8 regulates other autism risk genes during human neurodevelopment.
Nature communications 2015 Mar;66404
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Evolutionary changes in promoter and enhancer activity during human corticogenesis.
Science (New York, N.Y.) 2015 Mar;347(6226):1155-9
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Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
Cell 2013 Nov;155(5):997-1007
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The genomic landscape of cohesin-associated chromatin interactions.
Genome research 2013 Aug;23(8):1224-34
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The evolution of lineage-specific regulatory activities in the human embryonic limb.
Cell 2013 Jul;154(1):185-96
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Genomic analysis of non-NF2 meningiomas reveals mutations in TRAF7, KLF4, AKT1, and SMO.
Science (New York, N.Y.) 2013 Mar;339(6123):1077-80
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RNA-Seq profiling of spinal cord motor neurons from a presymptomatic SOD1 ALS mouse.
PloS one 2013 Jan;8(1):e53575
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Chromatin state signatures associated with tissue-specific gene expression and enhancer activity in the embryonic limb.
Genome research 2012 Jun;22(6):1069-80
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Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness.
Cell 2012 Feb;148(4):716-26
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Mitochondrial ribosomal protein L12 selectively associates with human mitochondrial RNA polymerase to activate transcription.
Proceedings of the National Academy of Sciences of the United States of America 2011 Nov;108(44):17921-6
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Transcriptional programs in transient embryonic zones of the cerebral cortex defined by high-resolution mRNA sequencing.
Proceedings of the National Academy of Sciences of the United States of America 2011 Sep;108(36):14950-5
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Core human mitochondrial transcription apparatus is a regulated two-component system in vitro.
Proceedings of the National Academy of Sciences of the United States of America 2010 Jul;107(27):12133-8
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Elucidation of separate, but collaborative functions of the rRNA methyltransferase-related human mitochondrial transcription factors B1 and B2 in mitochondrial biogenesis reveals new insight into maternally inherited deafness.
Human molecular genetics 2009 Jul;18(14):2670-82
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Human mitochondrial ribosomal protein MRPL12 interacts directly with mitochondrial RNA polymerase to modulate mitochondrial gene expression.
The Journal of biological chemistry 2007 Apr;282(17):12610-8
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Relative abundance of the human mitochondrial transcription system and distinct roles for h-mtTFB1 and h-mtTFB2 in mitochondrial biogenesis and gene expression.
Nucleic acids research 2007 Jan;35(12):4042-54
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Evidence for an early gene duplication event in the evolution of the mitochondrial transcription factor B family and maintenance of rRNA methyltransferase activity in human mtTFB1 and mtTFB2.
Journal of molecular evolution 2006 Nov;63(5):707-17
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Amino acids defining the acyl pocket of an invertebrate cholinesterase.
Comparative biochemistry and physiology. Part B, Biochemistry & molecular biology 2003 Dec;136(4):813-32
Title or Abstract | Type | Sponsor/Event | Date/Year | Location |
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Lecture for 2023 Marylou Buyse Distinguished Scientist in Craniofacial Research Award | Plenary Lecture | Society for Craniofacial Genetics and Developmental Biology | 2023 | Cincinnati, OH |
Multiomics approaches to understand human developmental abnormalities | Lecture | Cincinnati Children's Hospital Medical Center | 2022 | Cincinnati, OH |
Multiomics approaches to understand ?human developmental abnormalities | Lecture | Baylor College of Medicine | 2022 | Virtual |
Developmental enhancers: Substrates for evolution and contributors to disease risk | Lecture | Emory University Genetics and Molecular Biology Graduate Program | 2022 | Atlanta, GA |
Leveraging functional genomics to understand human craniofacial development and abnormalities | Talk | Emory University Department of Orthopaedics | 2022 | Atlanta, GA |
Leveraging functional genomics to understand human craniofacial development and abnormalities | Lecture | Gordon Research Craniofacial Morphogenesis and Tissue Regeneration | 2022 | Ventura, CA |
Leveraging functional genomics to understand developmental abnormalities and human disease | Talk | University of Kansas Medical Center Dept. of Anatomy | 2021 | Virtual |
Leveraging functional genomics to understand human developmental abnormalities | Talk | Emory University School of Medicine Dept. of Human Genetics | 2021 | Virtual |
Leveraging functional genomics to understand human craniofacial development and abnormalities | Talk | University of Missouri Kansas City Dept. of Oral and Craniofacial Sciences | 2021 | Virtual |
A distant locus control region of the HoxA gene cluster has unique superenhancer properties and is essential for normal craniofacial development and viability. | Plenary Lecture | EMBO Enhanceropathies | 2021 | Santander, Spain |
Single cell epigenomics of craniofacial development reveal cell type specific cis-regulatory sequences | Poster | Gordon Research Conference on Craniofacial Morphogenesis | 2020 | Barga, Italy |
Functional genomics approaches for uncovering the role of regulatory sequences in developmental abnormalities and disease | Plenary Lecture | European Society of Human Genetics | 2019 | Gothenberg, Sweden |
Functional Genomics approaches for Systems Neuroscience | Lecture | Kavli Institute for Neuroscience | 2019 | Tromso, Norway |
High Throughput Methods for Dissection of Human Craniofacial Cis-Regulome | Talk | ISG Networking Workshop | 2018 | Storrs |
High Resolution Epigenomic Atlas of Early Human Craniofacial Development | Talk | Gordon Conference: Craniofacial Morphogenesis | 2018 | Luca, Italy |
High Resolution Epigenomic Atlas of Early Human Craniofacial Development | Talk | American Society for Human Genetics | 2018 | San Diego, CA |
Epigenomic Annotation of Early Human Craniofacial Development | Talk | ISG Computational Biology Core Open House | 2018 | Storrs |
Roundtable on Open Science at UConn Library | Panel Discussion | UConn Library | 2018 | Storrs |
Functional Genomics Approaches for Understanding Human Developmental Disorders | Talk | Connecticut Childrens' Medical Center | 2018 | Farmington, CT |
High Resolution Epigenomic Atlas of Early Human Craniofacial Development | Poster | Cold Spring Harbor Laboratory Biology of Genomes | 2017 | Cold Spring Harbor, NY |
High Resolution Epigenomic Atlas of Early Human Craniofacial Development | Poster | Gordon Conference: Epigenomics | 2017 | Holderness, NH |
High Resolution Epigenomics in Early Human Craniofacial Development | Talk | UCHC MD/PHD Research Club | 2017 | Farmington, CT |
Current Technologies for Studying Chromatin | Lecture | JAXGM ChIA-PET Workshop | 2017 | Farmington, CT |
Regulation of autism risk networks by the chromatin remodeler CHD8 during human neurodevelopment | Talk | UConn Autism Workshop | 2016 | UConn Health |
Roadmap to Identifying Craniofacial Enhanceropathies | Poster | ASHG 2016 | 2016 | Vancouver, BC, Canada |
Unlocking the regulome to understand craniofacial disorders and skeletal development | Talk | UConn Musculoskeletal Institute Research Day | 2016 | Avon, CT |
Roadmap to identifying craniofacial enhanceropathies | Talk | Institute for Systems Genomics Networking Workshop | 2016 | JAXGM |
Roadmap to identifying craniofacial enhanceropathies | Talk | Epigenomics Workshop | 2016 | UCHC |
Functional Genomics Approaches to Understand Human Development, Evolution, and Disease | Talk | Skeletal Biology and Regeneration Graduate Program and Dept. of Cell Bio. | 2016 | UCHC |
Developmental Enhancers: Roles in Human Evolution and Disease | Talk | Regenerative Biology Research in Progress | 2015 | UCHC |
Developmental Enhancers: Roles in Human Evolution and Disease | Talk | UCSF Institute for Human Genetics | 2014 | San Francisco, CA |
Developmental Enhancers: Roles in Human Evolution and Disease | Talk | UCHC Dept. of Genetics and Genome Sciences | 2014 | Farmington, CT |
Developmental Enhancers: Roles in Human Evolution and Disease | Talk | JAX GM | 2013 | Farmington, CT |
36th Annual Meeting of the Society of Craniofacial Genetics and Developmental Biology | Talk | Society of Craniofacial Genetics and Developmental Biology | 2013 | Boston, MA |
3rd Kavli Community Symposium | Talk | Kavli Community Symposium | 2013 | Trondheim, NORWAY |
Gordon Research Seminar: Human Genetics and Genomics | Talk | Gordon Research Seminar | 2013 | Smithfield, RI |
Yale Center for Genome Analysis | Talk | Yale School of Medicine | 2013 | New Haven, CT |
The evolution of lineage-specific regulatory activities in the human embryonic limb | Poster | Gordon Research Conference: Human Genetics and Genomics | 2013 | Smithfield, RI |
The evolution of lineage-specific regulatory activities in the human embryonic limb | Poster | Biology of Genomes, Cold Spring Harbor Laboratory | 2013 | Cold Spring Harbor, NY |
Illumina Northeast User Meeting | Talk | Illumina Northeast User Meeting | 2012 | New Haven, CT |
Enhancers maintain a constitutive open chromatin state independent of tissue-specific activity during embryonic development | Poster | Systems Biology, Cold Spring Harbor Laboratory | 2012 | Cold Spring Harbor, NY |
Chromatin state transitions identify tissue-specific regulatory elements and predict gene expression gradients during mammalian embryonic development | Poster | Biology of Genomes, Cold Spring Harbor Laboratory | 2011 | Cold Spring Harbor, NY |
Control of embryonic limb development through changes in global chromatin organization and gene expression | Poster | Systems Biology, Cold Spring Harbor Laboratory | 2010 | Cold Spring Harbor, NY |
Mitochondria contain two members of a dual-function class of proteins that dynamically regulate mitochondrial gene expression | Poster | Nucleic Acids Enzymes, Keystone Symposium | 2006 | Taos, NM |
Probing the molecular basis of the substrate and inhibitor specificities of cholinesterase 1 and cholinesterase 2 from amphioxus | Poster | Experimental Biology | 2002 | New Orleans, LA |