Department of Medicine, SUNY Upstate Medical University, Syracuse, NY 13210, USA.
Genetics. 2012 Jul;191(3):1003-13. doi: 10.1534/genetics.112.138909. Epub 2012 May 2.
Conventional genetics assumes common variance among alleles or genetic groups. However, evidence from vertebrate and invertebrate models suggests that residual genotypic variance may itself be under partial genetic control. Such a phenomenon would have great significance: high-variability alleles might confound the detection of "classically" acting genes or scatter predicted evolutionary outcomes among unpredicted trajectories. Of the few works on this phenomenon, many implicate sex in some aspect of its control. We found that female genetic hypercalciuric stone-forming (GHS) rats (Rattus norvegicus) had higher coefficients of variation (CVs) for urinary calcium (CV = 0.14) than GHS males (CV = 0.06), and the reverse in normocalciuric Wistar-Kyoto rats (WKY) (CV(♂) = 0.14; CV(♀) = 0.09), suggesting sex-by-genotype interaction on residual variance. We therefore investigated the effect of sex on absolute-transformed residuals in urinary calcium in an F(2) GHS × WKY mapping cohort. Absolute residuals were associated with genotype at two microsatellites, D3Rat46 (RNO3, 33.9 Mb) and D4Mgh1 (RNO4, 84.8 MB) at Bonferroni thresholds across the entire cohort, and with the microsatellites D3Rat46, D9Mgh2 (RNO9, 84.4 Mb), and D12Rat25 (RNO12, 40.4 Mb) in females (P < 0.05) but not males. In GHS chromosome 1 congenic lines bred onto a WKY genomic background, we found that congenic males had significantly (P < 0.0001) higher CVs for urinary calcium (CV = 0.25) than females (CV = 0.15), supporting the hypothesis of the inheritance of sex-by-genotype interaction on this effect. Our findings suggest that genetic effects on residual variance are sex linked; heritable, sex-specific residuals might have great potential implications for evolution, adaptation, and genetic analysis.
传统遗传学假设等位基因或遗传群体之间存在共同方差。然而,来自脊椎动物和无脊椎动物模型的证据表明,剩余基因型方差本身可能受到部分遗传控制。这种现象将具有重大意义:高变异性等位基因可能会干扰“经典”作用基因的检测,或者将预测的进化结果散布在不可预测的轨迹中。在为数不多的关于这种现象的研究中,许多研究都暗示性别在其控制的某些方面起作用。我们发现,雌性遗传高钙尿结石形成(GHS)大鼠(Rattus norvegicus)的尿钙变异系数(CV)高于 GHS 雄性(CV=0.14),而在正常钙尿的 Wistar-Kyoto 大鼠(WKY)中则相反(CV(♂)=0.14;CV(♀)=0.09),表明剩余方差存在性别与基因型的相互作用。因此,我们在 F2 GHS×WKY 映射队列中研究了性别对尿钙绝对转化残差的影响。在整个队列中,绝对残差与微卫星 D3Rat46(RNO3,33.9Mb)和 D4Mgh1(RNO4,84.8MB)上的两个微卫星,以及在女性(P<0.05)但不在男性中的微卫星 D3Rat46、D9Mgh2(RNO9,84.4Mb)和 D12Rat25(RNO12,40.4Mb)相关。在 GHS 染色体 1 同基因系上繁殖到 WKY 基因组背景的雌性和雄性中,我们发现,同基因雄性的尿钙 CV 明显(P<0.0001)高于雌性(CV=0.25),支持该效应存在遗传性别与基因型相互作用的假说。我们的发现表明,遗传对剩余方差的影响是与性别相关的;可遗传的、性别特异性的残差可能对进化、适应和遗传分析具有重要意义。