Stefan Pinter
University of Connecticut, CT·Genetics
Females carry two X chromosomes and males carry an X and a Y. To balance gene doses, female cells silence one X early in development, a process called X chromosome inactivation (XCI).
- Fields
Genetics
Biology
Medicine & Clinical Research
- Topics
X chromosome inactivation
escape from X inactivation
escapee genes
- Grants
- 1 known grant, through Jul 2029
What they work on
- Link specific X/Y gene pairs and downstream pathways to impaired placental gene expression in monosomy-X, using trophoblast models derived from matched monosomy-X and normal human induced pluripotent stem cells.
- Determine how escapee genes help seed reactivation of the inactive X when XIST, the RNA that drives X inactivation, is repressed, using newly established human pluripotent stem cell lines.
- Use epigenetic tools that establish and maintain X chromosome inactivation from scratch in female stem cells to dissect how inactivation and escape work in humans.
- Generate validated, stable female stem cell lines with proper X inactivation for laboratory modeling of X-linked disease and sex differences.
More about the research
Some genes escape this silencing. These escapee genes are expressed from two copies in both sexes, and development appears to need that double dose. Losing a second sex chromosome (monosomy-X, karyotype 45,X) is the leading cause of miscarriage. Girls born with it have Turner syndrome (TS), which raises the risk of fatal heart events. It is unclear which escapees cause these problems. Mice are a poor model, because fewer of their genes escape XCI and they tolerate monosomy-X.
Why it matters
This work could clarify why missing a sex chromosome so often causes miscarriage, and how escapee genes contribute to Turner syndrome and to sex differences in disease. Understanding how genes are silenced and reactivated on the X may inform ways to turn back on a healthy gene copy in women with X-linked disorders. It could also provide more reliable stem cell lines for modeling these conditions.
Known grants
From NIH and NSF research grants. Labs often have other funding we can't see.
Closest labs
Thorold Theunissen
Washington University in St Louis, MO·Genetics
Map the signaling cascade during early primed-to-naïve conversion of human pluripotent stem cells using quantitative phosphoproteomics, to find ways to activate naïve genes without causing instability.
Frank Conlon
University of North Carolina at Chapel Hill, NC·Genetics
Test whether DDX3X, an X-linked RNA helicase that escapes X-inactivation, regulates sex-specific mRNA translation in heart muscle cells, using a conditional Ddx3x mouse allele.
Sanda Predescu
Rush University, IL·Medicine & Clinical Research
Validate that Xist, a long non-coding RNA that silences one X chromosome in females, is more highly expressed and active in female pulmonary arterial hypertension lung tissue and pulmonary artery endothelial cells.
The school
University of Connecticut: 31 labs on PI Pages, $434M a year on research, 360 research doctorates a year.
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