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Biology subjects

Hintzsche, J.

Publications and source records attributed to Hintzsche, J..

3 recordsLinked to original sources

Genomic and Epigenomic Relationships Capture Different Patterns of Genotype-by-Environment Interaction in Grapevine Clones

Genotype-by-environment interaction (GEI) challenges selection in clonally propagated perennial crops by reducing the consistency of clone performance across years. In perennial crops, both genetic and epigenetic variation are likely to contribute to complex trait variation among clones. However, the extent to which each molecular source contribute to GEI remains poorly understood. Here, we used UMR-seq, an assay that recovers SNPs and unmethylated-region (UMR; DNA methylation) profiles from a single library, to generate paired genomic and epigenomic profiles for 206 Riesling (Vitis vinifera L.) clones phenotyped for yield and juice quality traits across nine growing seasons. We then partitioned the contribution of each omic layer to clonal variation and GEI, and examined the genomic distribution of their effects. In models without explicit GEI, environmental and residual effects were the largest source of phenotypic variance and the clonal main effect was modest. Genomic relationships accounted for most of the clonal variance in four of five traits, and adding an epigenomic relationship matrix (ERM) to the genomic relationship matrix (GRM) had little effect. In contrast, when GEI effects were modelled using factor-analytic covariance structures, the epigenomic layer captured a substantial proportion of GEI variance and exceeded the genomic contribution in four of five traits. The two omic layers differed not only in the amount of GEI captured, but also in the pattern of clone re-ranking across years. When back-solved effects were aggregated into genomic windows, the largest genomic and epigenomic effects tended to fall in different regions, with overlap no greater than expected by chance. Together, these results show that genomic and epigenomic relationships capture complementary components of year-to-year variation in clone performance, with the epigenomic contribution expressed primarily through GEI. These findings provide a basis for investigating the molecular drivers of GEI and for testing whether genomic and epigenomic information can inform selection for stable clonal performance across variable environments.

genetics↗

High-throughput sequencing of unmethylated DNA (UMR-seq) reveals extensive epigenetic variation in the hypomethylome of diverse plant species

The unmethylated regions (UMRs) in a genome can reveal the location of genes and gene regulatory loci. However, discovering UMR variation across and between entire genomes and disentangling the contribution of genetics and epigenetics to traits are challenging because they require separate and costly whole-DNA methylome and whole-genome genetic analyses. In many species this is prohibitively expensive for even a small number of samples, curtailing analysis on a population or breeding scale. Here we introduce UMR-seq, a method for the specific capture of UMRs from a genome and simultaneous sequencing of genetic variants in a single economical and scalable assay. UMR-seq charts the hypomethylome, revealing that it is highly enriched with functionally important regulatory loci. While UMRs are highly stable between vegetative tissues in plants, we find they are dynamic in the endosperm and vary substantially between accessions. Adaptable to diverse species, using this method we uncover a positive correlation between gene number in a species and UMR content, reflecting gene regulatory space in a genome. At 1/50th of the conventional cost of methylome sequencing in wheat, UMR-seq enables simultaneous population scale analysis of genetic and epigenetic variation in the functional genomic space. We reveal that in a panel of 187 elite wheat cultivars, profiling UMR variation improved genomic prediction across population groups, and UMR-based association mapping identified trait associations that were largely distinct from those detected with SNPs, providing new opportunities to understand trait biology and to enhance predictive breeding.

genomics↗

SASH1 interacts with TNKS2 and promotes human melanocyte stem cell maintenance

Both aging spots (hyperpigmentation) and hair graying (lack of pigmentation) are associated with aging, two seemingly opposite pigmentation phenotypes. It is not clear how they are mechanistically connected. This study investigated the underlying mechanism in a family with an inherited pigmentation disorder. Clinical examinations identified accelerated hair graying and skin dyspigmentation (intermixed hyper and hypopigmentation) in the family members carrying the SASH1S519N variant. Cell assays indicated that SASH1 promoted stem-like characteristics in human melanocytes, and SASH1S519N was defective in this function. Multiple assays showed that SASH1 binds to tankyrase 2 (TNKS2), which is required for SASH1s promotion of stem-like function. Further, the SASH1S519N variant is in a bona fide Tankyrase-binding motif, and SASH1S519N alters the binding kinetics and affinity. Results here indicate SASH1 as a novel protein regulating the appropriate balance between melanocyte stem cells (McSC) and mature melanocytes (MCs), with S519N variant causing defects. We propose that dysfunction of McSC maintenance connects multiple aging-associated pigmentation phenotypes in the general population.

cell biology↗