Irene Tiemann‐Boege

This study shows PRDM9 binds G-quadruplex structures, enhancing meiotic recombination by creating chromatin accessibility.

The paper detects mtDNA mutations in oocytes, blood, and saliva across ages and finds mutations increase in blood and saliva but not in oocytes, with age-related differences in mutation frequency distribution.

The paper identifies pathogenic post-zygotic variants in normal breast tissue of poor-prognosis cancer patients, linking them to reduced survival and disease recurrence.

The paper detects ErbB2 mutations in male germline using error-corrected sequencing, finding age-related accumulation and early mutational enrichment in young donors.

The paper investigates FGFR3 mutations in the male germline, finding some mutations increase with age and lead to clonal expansions and higher mutation rates.

The paper quantifies FGFR3 signaling in live cells using micropatterned surfaces and GRB2 recruitment, showing ligand-dependent and mutant-specific activation patterns.

The paper uses duplex sequencing to analyze de novo mutations in sperm DNA from older and younger donors, finding higher mutation frequencies and recurrence in older donors.

The paper develops quality control tools to improve duplex sequencing data yields by reducing data loss and enhancing variant calling accuracy.

The paper corrects errors in duplex sequencing data to reunite reads and improve the efficiency of variant detection.

LDJump estimates historical recombination rates and identifies hotspots using a sequential multiscale change point estimator, validated on human genome data.

The paper shows PRDM9 forms an active trimer with DNA, mediated by its ZnF array, and identifies which ZnF binds DNA while others stabilize the complex.

The paper investigates how length asymmetry and heterozygosity affect poly-A microsatellite evolution at meiotic recombination hotspots, finding deletion and insertion biases based on allele length differences.