Dawn E. Watkins‐Chow

PRDM9-mediated meiotic hotspot specification is constrained in humans despite extensive sequence diversity

The paper functionally characterizes human PRDM9 alleles to show that despite sequence diversity, most alleles function similarly, while rare variants show extreme DNA binding effects.

Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia

This study creates a murine model of Osteoglophonic Dysplasia by introducing a gain-of-function FGFR1 variant, revealing pathogenic mechanisms and demonstrating therapeutic potential with infigratinib.

Young KRAB-zinc finger gene clusters are highly dynamic incubators of ERV-driven genetic heterogeneity in mice

The paper analyzes young KRAB-zinc finger gene clusters in mice, showing ERVs drive genetic heterogeneity through recombination and duplication mechanisms.

Characterization of a novel mouse model of Dopamine Transporter Deficiency Syndrome and pharmacological therapeutic strategies

This study creates a mouse model of DTDS with the A313V DAT variant and identifies two potential treatments, [a]MPT and AMPH, that reduce hyperactivity.

Transcriptomic profiling of tissue environments critical for post-embryonic patterning and morphogenesis of zebrafish skin

The paper uses single-cell transcriptomics to study zebrafish skin development, identifying new cell types and signaling mechanisms involved in pigment pattern and scale formation.

Loss of MC1R signaling implicates TBX3 in pheomelanogenesis and melanoma predisposition

The paper identifies TBX3 as a key regulator in pheomelanogenesis and melanoma predisposition through scRNA-seq analysis of RHC mouse models.

Highly-efficient Cpf1-mediated gene targeting in mice following high concentration pronuclear injection

This study shows that Cpf1 can achieve high gene targeting rates in mice, sometimes surpassing Cas9, but requires higher mRNA and guide concentrations.