The Fish Molecular Genetics and Biotechnology Laboratory, Aquatic Genomics Unit, School of Fisheries, Aquaculture and Aquatic Sciences, Auburn University, Auburn, AL, 36849, USA.
USDA-ARS Warmwater Aquaculture Research Unit, P.O. Box 38, 141 Experiment Station Road, Stoneville, MS, 38776, USA.
BMC Biol. 2019 Jan 25;17(1):6. doi: 10.1186/s12915-019-0627-7.
Sex determination mechanisms in teleost fish broadly differ from mammals and birds, with sex chromosomes that are far less differentiated and recombination often occurring along the length of the X and Y chromosomes, posing major challenges for the identification of specific sex determination genes. Here, we take an innovative approach of comparative genome analysis of the genomic sequences of the X chromosome and newly sequenced Y chromosome in the channel catfish.
Using a YY channel catfish as the sequencing template, we generated, assembled, and annotated the Y genome sequence of channel catfish. The genome sequence assembly had a contig N50 size of 2.7 Mb and a scaffold N50 size of 26.7 Mb. Genetic linkage and GWAS analyses placed the sex determination locus within a genetic distance less than 0.5 cM and physical distance of 8.9 Mb. However, comparison of the channel catfish X and Y chromosome sequences showed no sex-specific genes. Instead, comparative RNA-Seq analysis between females and males revealed exclusive sex-specific expression of an isoform of the breast cancer anti-resistance 1 (BCAR1) gene in the male during early sex differentiation. Experimental knockout of BCAR1 gene converted genetic males (XY) to phenotypic females, suggesting BCAR1 as a putative sex determination gene.
We present the first Y chromosome sequence among teleost fish, and one of the few whole Y chromosome sequences among vertebrate species. Comparative analyses suggest that sex-specific isoform expression through alternative splicing may underlie sex determination processes in the channel catfish, and we identify BCAR1 as a potential sex determination gene.
硬骨鱼类的性别决定机制与哺乳动物和鸟类有很大的不同,其性染色体分化程度较低,重组通常发生在 X 和 Y 染色体的全长上,这给特定性别决定基因的鉴定带来了重大挑战。在这里,我们采用比较基因组分析的创新方法,对斑点叉尾鮰的 X 染色体和新测序的 Y 染色体的基因组序列进行了分析。
我们以 YY 斑点叉尾鮰作为测序模板,生成、组装并注释了斑点叉尾鮰的 Y 基因组序列。基因组序列组装的 contig N50 大小为 2.7 Mb,scaffold N50 大小为 26.7 Mb。遗传连锁和 GWAS 分析将性别决定位点定位在遗传距离小于 0.5 cM 和物理距离 8.9 Mb 的范围内。然而,比较斑点叉尾鮰的 X 和 Y 染色体序列显示没有性别特异性基因。相反,对雌性和雄性之间的比较 RNA-Seq 分析显示,在早期性别分化过程中,BCAR1 基因的一种性别特异性同工型在雄性中表现出独特的性别特异性表达。BCAR1 基因的实验敲除将遗传雄性(XY)转化为表型雌性,表明 BCAR1 可能是一个潜在的性别决定基因。
我们展示了硬骨鱼类中的第一个 Y 染色体序列,也是少数脊椎动物物种中的全 Y 染色体序列之一。比较分析表明,通过选择性剪接产生的性别特异性同工型表达可能是斑点叉尾鮰性别决定过程的基础,我们确定 BCAR1 为一个潜在的性别决定基因。