A region on Chr 1 implicated in the bHR/bLR phenotype contains two genes
important for brain function and development: Ucp2 and C2cd3. (A)
Genetic variants on Chr 1 within Ucp2 and
C2cd3 segregate bHR and bLR rats in our colony (Rnor5
coordinates, Fisher’s exact test: SNV 1_171712284: p =
1.66 × 10−9; SNV 1_171672484: p = 1.27
× 10−13). (B)
Ucp2 and C2cd3 are located on Chr 1 within a
QTL for exploratory locomotor activity. An example of the correlation between
genetic variation in this region and behavior is illustrated using the
sequencing results from a nearby SNV and exploratory locomotor activity measured
in a bHR×bLR F2 intercross (n = 310; adjusted
R2 = .049, p = 2.00 ×
10−4, FDR = .0048). (C)
C2cd3 and Ucp2 were the top DE genes (FDR
< .05) within a segment of Chr 1 enriched for DE genes and containing a
QTL for exploratory locomotor activity (25). The table illustrates the DE genes within this region. Estimate
shows the estimated effect size (green/positive = higher expression in bHRs).
Bold = p < .05, and bold + italic = FDR < .05.
(D) A forest plot showing that Ucp2 had higher
expression in bHRs in 4 of the 5 adult datasets included in the adult
meta-analysis (boxes = Cohen’s d from each study
± 95% CIs; Model = estimated effect size ± 95% CIs provided by the
meta-analysis; effect of phenotype: β = 1.29, p = 1.27
× 10−4, FDR = 3.83 × 10−2).
This direction of effect mirrors findings in the literature showing that
Ucp2 knockout mice have higher anxiety-like behavior and
lower locomotor activity as well as greater sensitivity to stress (66,67,69,70), much like our bLR rats. (E) A
forest plot showing that C2cd3 had higher expression in bHRs in
3 adult datasets included in the adult meta-analysis (effect of phenotype:
β = 2.06, p = 2.84 × 10−5, FDR
= 1.73 × 10−2). (F) In the behavioral data
accompanying the MBNI_RNASeq_F37 dataset, C2cd3 [units: log(2)
FPM] showed a positive relationship with exploratory locomotor activity
(β = 0.000109, R2 = .26, p =
3.20 × 10−2). (G) In the behavioral data
accompanying the MBNI_RNASeq_F37 dataset, Ucp2 showed a trend
toward a positive relationship with percentage of time spent in the anxiogenic
open arms of the EPM (β = 0.03, R2 = .22,
p = 5.16 × 10−2). bHR, bred
high-responder; bIR, bred intermediate-responder; bLR, bred low-responder; Chr,
chromosome; CI, confidence interval; DE, differentially expressed; EPM, elevated
plus maze; FDR, false discovery rate; FPM, fragments per million; QTL,
quantitative trait locus; SNV, single nucleotide variant.