Uma P. Arora

Human genetics implicates a BACH2-NRF2 axis in fetal hemoglobin activation

This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Inherited resilience to clonal hematopoiesis by modifying stem cell RNA regulation

The paper identifies a genetic variant that protects against clonal hematopoiesis by regulating RNA-binding protein MSI2 in hematopoietic stem cells.

Polygenic modifiers of expressivity in telomere biology disorders

This study identifies polygenic modifiers of expressivity in telomere biology disorders by showing how common and rare genetic variants interact to influence clinical variability.

Transcription factor networks disproportionately enrich for heritability of blood cell phenotypes

The paper identifies TF-sensitive chromatin regions as highly enriched for heritability of blood cell phenotypes, using a novel single-cell multi-omics approach.

Molecular evolution of the mammalian kinetochore complex

This study investigates the molecular evolution of the kinetochore complex across primate and rodent species, finding adaptive evolution in many core components and highlighting the role of centromere features in driving protein evolution.

Centromere Innovations Within a Mouse Species

The paper describes a novel centromere structure in the mouse species Mus pahari, characterized by a divergent repeat and unique CENP-B recruitment, enabling high-fidelity segregation during cell division.

Strain level centromere variation influences CENP-A association dynamics and centromere function

The paper investigates strain-level variation in CENP-A association with centromeres in mice, finding strain-specific differences that challenge the idea that centromere function depends solely on satellite array size.

Population and species diversity at mouse centromere satellites

The paper quantifies centromere sequence variation across mouse genomes and finds rapid evolution and inbreeding effects on centromere architecture.