Photo of Stefan F. Pinter, Ph.D.

Stefan F. Pinter, Ph.D.

Assistant Professor, Genetics and Genome Sciences
Institute for Systems Genomics
Assistant Director, Graduate Program in Genetics and Developmental Biology
Academic Office Location:
Genetics & Genome Sciences
UConn Health
400 Farmington Avenue
Farmington, CT 06030-6403
Phone: 860-679-3657
Fax: 860-679-8345

Genetics and Developmental Biology Graduate Program

B.S.St. Michael’s CollegeBiology
Ph.D.Princeton UniversityMolecular Biology

Post-Graduate Training
PostdoctoralMGH, Harvard Medical SchoolResearch Fellow in Molecular Biology

Name of Award/HonorAwarding Organization
Centennial Award for Molecular Genetics ArticleGenetics Society of America
Fund for Medical Discovery FellowshipMassachusetts General Hospital
Research FellowshipGerman Research Foundation (DFG)
Name & DescriptionCategoryRoleTypeScopeStart YearEnd Year
Assistant Co-Director, Genetics & Developmental Biology Graduate ProgramEducation CommitteeMember of AoC executive committeeUConn HealthUniversity2017
Biomedical Science Admissions CommitteeEducation CommitteeApplication review and interviewingUConn HealthUniversity20162019

The primary research objective in my lab is to learn how chromosome topology, non-coding (nc)RNA and chromatin modifiers orchestrate gene expression. Over a decade of genome-wide association studies has revealed a common theme in a wide variety of conditions, namely, that the vast majority of risk/benefit conferring variants reside not in genes, but in non-coding regions of the genome that control gene expression. Yet, our mechanistic understanding of gene regulation is insufficient to predict the functional impact of these variants or to impose desired gene expression outcomes epigenetically. We therefore develop novel and scalable genomic methodology to explore several poorly-understood aspects of gene regulation, particularly at the intersection of genome architecture and transcription.

The mammalian X chromosome provides a unique and informative perspective on this problem, in a classic model of epigenetics: X chromosome inactivation (XCI), the process by which one X chromosome in females is silenced to achieve gene dosage parity with males. XCI combines changes in nuclear architecture, chromosome topology, chromatin compaction, and nucleosome/nucleotide-level modifications to silence the X chromosome, all driven initially by the cis-acting long ncRNA Xist. Some X-linked genes however, are skipped by Xist and remain active, escaping XCI on the otherwise inactive X chromosome (“escapees”).

We are interested in understanding the mechanisms that allow escapees to insulate themselves against an oncoming wave of heterochromatin. Translating these lessons to other X-linked genes that are subject to XCI, may allow us to address genetic disorders affecting heterozygous females, including Rett’s syndrome (MECP2) and Duchenne’s muscular dystrophy (DMD). Furthermore, because several escapees have Y-linked homologs, both XY males and XX females have two active copies. Turner’s syndrome (XO karyotype) is therefore likely the result of haploinsufficiency in one or more of these genes. By far the most frequent outcome of XO karyotype, is failure to reach term due to placental defects, accounting for an estimated 10-15% of all spontaneous terminations. We aim to dissect which genes contribute to this developmental disorder and explore avenues to correct their dosage in the relevant extra-embryonic cell types.

Accepting Lab Rotation Students: Summer '19, Fall '19, Spring '20

Journal Articles


Title or AbstractTypeSponsor/EventDate/YearLocation
Chromosome dosage & compensation in stem cell models of viable human aneuploidyTalkDean's Faculty Research Seminar, UConn Health2018Farmington, CT
Of Megadomains and Superloops: How Tandem Repeats Shape the Inactive X ChromosomeTalkFusion Conference on Epigenetics2018Cancun, Mexico
Causes and Consequences of Allelic Dosage RegulationTalkFels Institute, Temple University2017Philadelphia, PA
Allelic imbalance is a prevalent and tissue-specific feature of autosomal and X-linked genes in F1 hybrid miceTalkThe Allied Genetics Conference (TAGC), Genetics Society of America (GSA)2016Orlando, FL
Tissue-specific Allelic Imbalance is Prevalent in Hybrid MiceTalkAbcam Epigenetics Conference2015Boston, MA
Tissue-specific Allelic Imbalance of Mouse Autosomal GenesTalkNE Regional Chromosome Pairing Conf.2014Boston, MA
Spreading of X-Chromosome InactivationTalkHMS Program in Genetics and Genomics2014Boston, MA
Mapping of Xist RNA and Polycomb Repressive Complex 2 across the inactive XTalkBerlin Summer Meeting, Max-Delbrück Centre for Molecular Medicine2013Berlin, Germany