基于全基因组测序的黑鲷自体受精子代遗传纯合性与基因鉴定分析

GENETIC HOMOZYGOSITY AND GENE IDENTIFICATION IN SELF-FERTILIZED INDIVIDUALS OF ACANTHOPAGRUS SCHLEGELII BASED ON WHOLE-GENOME SEQUENCING

  • 摘要: 为研究黑鲷自体受精子代的遗传信息变化, 采用全基因组重测序分析了3个黑鲷自体受精子代家系群体(BP246、BP291及BP384)的单核苷酸多态性(SNP)及遗传纯合等情况。3个群体共鉴定出3991267个SNP多态位点, 其中位于内含子区位点占比最大(47.42%); 子代平均纯合位点占比(69.11%)显著高于亲本(38.49%); BP246、BP291及BP384的观测杂合度(Ho)依次分别为0.2986、0.2875及0.2805, 均低于各自的期望杂合度(He)0.3947、0.3946及0.3946; 分析遗传分化指数(Fst)、主成分聚类及系统发育树结果得出子代群体间存在较高遗传分化; 群体中共检测出10991个连续纯合片段(ROH), 其中<1 Mb短片段占52.5%, >2.5 Mb长片段占9.4%; 于5个染色体中检测、鉴定出13个ROH岛, 注释出到468个基因, 其中显著富集到64个可能与生长、免疫等关键性状相关的候选基因, 主要分布于钙信号(CACNA1S)、能量代谢(AMPDADCY5/6)、DNA修复(RAD18)及免疫调节(PIK3CA_B_D)等通路。研究结果为黑鲷育种策略的精细化构建及自交遗传学研究等提供科学依据。

     

    Abstract: Hermaphroditism occurs in many fish species, yet self-fertilization remains rare. As an extreme form of inbreeding, selfing offers a rapid method to establish pure lines for breeding purposes. Black porgy (Acanthopagrus schlegelii), a commercially important marine fish widely distributed along the coast of China, is a protandrous hermaphrodite. Individuals are functionally male at 1—2 years of age, with about 30% undergoing sex reversal to females at age 3. By cryopreserving sperm from a male-phase individual and later using it to fertilize eggs from the same individual after it becomes female, self-fertilization can be achieved. This approach offers a novel strategy to accelerate genetic improvement in the species, with important implications for developing new breeding models and overcoming the persistent shortage of improved varieties in aquaculture. To examine genetic changes in self-fertilized offspring of black porgy, whole-genome resequencing was used to analyze single-nucleotide polymorphisms (SNPs) and homozygosity in three selfed families (BP246, BP291, and BP384). Across the three families, 3991267 SNP sites were identified, the largest proportion (47.42%) of which were located in introns. The average proportion of homozygous sites in offspring was 69.11%, significantly higher than in parents (38.49%). Observed heterozygosity (Ho) values for BP246, BP291, and BP384 were 0.2986, 0.2875, and 0.2805, respectively-all lower than the corresponding expected heterozygosity (He) values (0.3947, 0.3946, and 0.3946). Analysis of Fst, principal components, and phylogenetic trees revealed high genetic differentiation among the offspring families. A total of 10991 runs of homozygosity (ROH) were detected in offspring, with short fragments (<1 Mb) accounting for 52.5% and long fragments (>2.5 Mb) for 9.4%. Thirteen ROH islands (high-frequency homozygous regions) were identified on five chromosomes, encompassing 468 annotated genes. 64 candidate genes were significantly enriched and potentially linked to traits such as growth and immunity. These genes were primarily involved in calcium signaling (e.g., CACNA1S), energy metabolism (AMPD, ADCY5/6), DNA repair (RAD18), and immune regulation (PIK3CA_B_D). The findings provide a scientific basis for refining black porgy breeding strategies and advancing genetic research on self-fertilization in fish.

     

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