Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York.
Mol Carcinog. 2010 Jul;49(7):653-61. doi: 10.1002/mc.20635.
Susceptibility to tumor development varies among mice strains. Using inbred NIH and wild-derived outbred Mus spretus backcrosses, skin cancer-susceptibility loci were mapped [Nagase et al. 1995. Nat Genet 10: 424-429; Nagase et al. 1999. Proc Natl Acad Sci USA 96: 15032-15037], and Skts13 was identified as the Aurka gene using a conventional linkage in conjunction with haplotype analysis [Ewart-Toland et al. 2003. Nat Genet 34: 403-412]. In the present study, we examined another wild-derived outbred Mus musculus castaneus in which 10.3% of the analyzed SNPs showed heterogeneity among the colony. All mice examined were completely resistant to the two-stage skin carcinogenesis protocol using 7.12-dimethylbenz(a)anthracene (DMBA)/12-O-tetradecanoylphorbol-13-acetate (TPA), and this resistant phenotype was dominant when we crossed them with the highly susceptible strain FVB. By scanning F1 backcross progeny between M. m. castaneus and FVB, we found a highly significant linkage for tumor multiplicity on Chromosome 4, which was overlapped with the Skts-fp1 locus, found in the previous study using FVB and PWK cross [Fujiwara et al. 2007. BMC Genet 8: 39]. The linkage was observed in all pedigrees from the five F1 founders, while the linkage for papilloma size on Chromosome 4 was mapped only in pedigrees from founders 1 and 2. By scanning the whole Chromosome 4 of the five F1 founders, founders 1- and 2-specific haplotype block was found between D4Mit293 (20.6 Mbp) and D4Mit171 (22.4 Mbp). In this study we exploited the outbred nature of M. m. castaneus stock to identify a haplotype contributing to papilloma size on mouse Chromosome 4. These data illustrate the strength of using outbred mice in identification of the genetic component of a mouse complex trait such as the skin cancer-susceptibility phenotype.
不同品系的小鼠对肿瘤发生的易感性存在差异。通过对近交系 NIH 和野生型远交系 Mus spretus 的回交品系进行研究,已经定位了皮肤癌易感性基因座[ Nagase 等人,1995 年,《自然遗传学》10:424-429;Nagase 等人,1999 年,《美国国家科学院院刊》96:15032-15037],并使用传统连锁分析结合单倍型分析鉴定出 Skts13 是 Aurka 基因[Ewart-Toland 等人,2003 年,《自然遗传学》34:403-412]。在本研究中,我们研究了另一种来自野生型远交系 Mus musculus castaneus 的小鼠,在该小鼠中,分析的 SNP 中有 10.3%在群体中表现出异质性。所有接受检查的小鼠对使用 7.12-二甲基苯并(a)蒽(DMBA)/12-O-十四烷酰佛波醇-13-乙酸酯(TPA)的两阶段皮肤致癌发生方案完全具有抗性,当我们将它们与高度易感的 FVB 品系杂交时,这种抗性表型是显性的。通过对 M. m. castaneus 和 FVB 之间的 F1 回交后代进行扫描,我们发现 4 号染色体上的肿瘤多发性存在高度显著的连锁,该连锁与之前使用 FVB 和 PWK 杂交研究中发现的 Skts-fp1 基因座重叠[Fujiwara 等人,2007 年,《BMC 遗传学》8:39]。这种连锁在来自五个 F1 创始人的所有家系中都有观察到,而 4 号染色体上的乳头状瘤大小的连锁仅在来自创始人 1 和 2 的家系中被映射。通过扫描五个 F1 创始人的整条 4 号染色体,在 D4Mit293(20.6 Mbp)和 D4Mit171(22.4 Mbp)之间发现了创始人 1-和 2-特异性单倍型块。在这项研究中,我们利用了 M. m. castaneus 品系的远交特性,鉴定了一个与小鼠 4 号染色体上的乳头状瘤大小有关的单倍型。这些数据说明了在鉴定皮肤癌易感性表型等复杂性状的遗传组成时,使用远交系小鼠的优势。