Wessels Stephan, Krause Ina, Floren Claudia, Schütz Ekkehard, Beck Jule, Knorr Christoph
Department of Animal Sciences, Division of Aquaculture and Water Ecology, University of Goettingen, Albrecht-Thaer-Weg 3, 37075, Goettingen, Germany.
Department of Animal Sciences, Division of Livestock Biotechnology and Reproduction, University of Goettingen, Burckhardtweg 2, 37077, Goettingen, Germany.
BMC Genomics. 2017 Jul 14;18(1):531. doi: 10.1186/s12864-017-3930-0.
In Nile tilapia sex determination is governed by a male heterogametic system XX/XY either on LG1 or LG23. The latter carries a Y-specific duplicate of the amh gene, which is a testis-determining factor. Allelic variants in the amh gene demonstrated to be major triggers for autosomal and temperature-dependent sex reversal. Further, QTL on LG23 and LG20 show a temperature-responsiveness with influence on the phenotypic sex relative to the sex chromosomes. Here we present a ddRADseq based approach to identify genomic regions that show unusual large differentiation in terms of fixation index (F) between temperature-treated pseudomales and non-masculinized females using a comparative genome-scan. Genome-wide associations were identified for the temperature-dependent sex using a genetically all-female population devoid of amh-ΔY.
Twenty-two thousand three hundred ninety-two SNPs were interrogated for the comparison of temperature-treated pseudomales and females, which revealed the largest differentiation on LG23. Outlier F-values (0.35-0.44) were determined for six SNPs in the genomic interval (9,190,077-11,065,693) harbouring the amh gene (9,602,693-9,605,808), exceeding the genome-wide low F of 0.013. Association analysis with a set of 9104 selected SNPs confirmed that the same genomic region on LG23 exerts a significant effect on the temperature-dependent sex.
This study highlights the role of LG23 in sex determination, harbouring major determinants for temperature-dependent sex reversal in Nile tilapia. Furthermore F outlier detection proves a powerful tool for detection of sex-determining regions in fish genomes.
尼罗罗非鱼的性别决定由LG1或LG23上的雄性异配系统XX/XY控制。LG23携带抗缪勒氏管激素(amh)基因的Y特异性重复基因,该基因是睾丸决定因子。amh基因中的等位基因变异被证明是常染色体和温度依赖性性别逆转的主要触发因素。此外,LG23和LG20上的数量性状基因座(QTL)显示出温度响应性,对相对于性染色体的表型性别有影响。在此,我们提出一种基于ddRADseq的方法,通过比较基因组扫描来识别在温度处理的假雄鱼和未雄性化的雌鱼之间固定指数(F)显示出异常大差异的基因组区域。使用不含amh-ΔY的遗传全雌群体,鉴定了与温度依赖性性别相关的全基因组关联。
对22392个单核苷酸多态性(SNP)进行了温度处理的假雄鱼和雌鱼的比较,结果显示LG23上的差异最大。在包含amh基因(9602693 - 9605808)的基因组区间(9190077 - 11065693)中,六个SNP的异常F值(0.35 - 0.44)被确定,超过了全基因组0.013的低F值。对一组9104个选定SNP的关联分析证实,LG23上的同一基因组区域对温度依赖性性别有显著影响。
本研究突出了LG23在性别决定中的作用,它包含尼罗罗非鱼温度依赖性性别逆转的主要决定因素。此外,F异常值检测证明是检测鱼类基因组中性别决定区域的有力工具。