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@ARTICLE{Senko:163944,
author = {Senko, Anna N and Overall, Rupert and Silhavy, Jan and
Mlejnek, Petr and Malínská, Hana and Hüttl, Martina and
Marková, Irena and Fabel, Klaus S and Lu, Lu and Stuchlik,
Ales and Williams, Robert W and Pravenec, Michal and
Kempermann, Gerd},
title = {{S}ystems genetics in the rat {HXB}/{BXH} family identifies
{T}ti2 as a pleiotropic quantitative trait gene for adult
hippocampal neurogenesis and serum glucose.},
journal = {PLoS Genetics},
volume = {18},
number = {4},
issn = {1553-7390},
address = {San Francisco, Calif.},
publisher = {Public Library of Science},
reportid = {DZNE-2022-00618},
pages = {e1009638},
year = {2022},
abstract = {Neurogenesis in the adult hippocampus contributes to
learning and memory in the healthy brain but is dysregulated
in metabolic and neurodegenerative diseases. The molecular
relationships between neural stem cell activity, adult
neurogenesis, and global metabolism are largely unknown.
Here we applied unbiased systems genetics methods to
quantify genetic covariation among adult neurogenesis and
metabolic phenotypes in peripheral tissues of a genetically
diverse family of rat strains, derived from a cross between
the spontaneously hypertensive (SHR/OlaIpcv) strain and
Brown Norway (BN-Lx/Cub). The HXB/BXH family is a very well
established model to dissect genetic variants that modulate
metabolic and cardiovascular diseases and we have
accumulated deep phenome and transcriptome data in a
FAIR-compliant resource for systematic and integrative
analyses. Here we measured rates of precursor cell
proliferation, survival of new neurons, and gene expression
in the hippocampus of the entire HXB/BXH family, including
both parents. These data were combined with published
metabolic phenotypes to detect a neurometabolic quantitative
trait locus (QTL) for serum glucose and neuronal survival on
Chromosome 16: 62.1-66.3 Mb. We subsequently fine-mapped the
key phenotype to a locus that includes the Telo2-interacting
protein 2 gene (Tti2)-a chaperone that modulates the
activity and stability of PIKK kinases. To verify the
hypothesis that differences in neurogenesis and glucose
levels are caused by a polymorphism in Tti2, we generated a
targeted frameshift mutation on the SHR/OlaIpcv background.
Heterozygous SHR-Tti2+/- mutants had lower rates of
hippocampal neurogenesis and hallmarks of dysglycemia
compared to wild-type littermates. Our findings highlight
Tti2 as a causal genetic link between glucose metabolism and
structural brain plasticity. In humans, more than 800
genomic variants are linked to TTI2 expression, seven of
which have associations to protein and blood stem cell
factor concentrations, blood pressure and frontotemporal
dementia.},
keywords = {Animals / Glucose: genetics / Glucose: metabolism /
Hippocampus: metabolism / Humans / Neurogenesis: genetics /
Phenotype / Rats / Rats, Inbred BN / Rats, Inbred SHR /
Glucose (NLM Chemicals)},
cin = {AG Kempermann / AG White},
ddc = {610},
cid = {I:(DE-2719)1710001 / I:(DE-2719)1740002},
pnm = {352 - Disease Mechanisms (POF4-352)},
pid = {G:(DE-HGF)POF4-352},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:35377872},
pmc = {pmc:PMC9060359},
doi = {10.1371/journal.pgen.1009638},
url = {https://pub.dzne.de/record/163944},
}