Ninghai Institute of Mariculture Breeding and Seed Industry, Zhejiang Wanli University, Ninghai, 315604, China.
Key Laboratory of Aquatic Germplasm Resource of Zhejiang, College of Biological & Environmental Sciences, Zhejiang Wanli University, Ningbo, 315100, China.
BMC Genomics. 2024 Oct 4;25(1):931. doi: 10.1186/s12864-024-10857-3.
Anadara granosa, commonly known as the blood clam, exhibits the unusual characteristic of having red blood among invertebrates. There is significant individual variation in blood color intensity among blood clams; individuals with vibrant red blood are deemed healthier and exhibit stronger stress resistance. However, the molecular basis underlying these red blood traits (RBTs) remains poorly understood.
In this study, we performed genome-wide association studies (GWAS) in a population of 300 A. granosa individuals, focusing on RBTs as measured by hemoglobin concentration (HC), total hemocyte count (THC), and heme concentration (HEME). Our analysis identified 18 single nucleotide polymorphisms (SNPs) correlated with RBTs, subsequently selected 117 candidate genes within a 100 kb flanking region of these SNPs, potentially involved in the RBTs of A. granosa. Moreover, we discovered two haplotype blocks specifically associated with THC and HEME. Further analysis revealed eight genes (Septin7, Hox5, Cbfa2t3, Avpr1b, Hhex, Eif2ak3, Glrk, and Rpl35a) that significantly influence RBTs. Notably, a heterozygous A/T mutation in the 3'UTR of Cbfa2t3 was found to promote blood cell proliferation. These genes suggest that the hematopoietic function plays a significant role in the variability of RBTs in A. granosa.
Our findings reveal a conservation of the regulatory mechanisms of RBTs between blood clams and vertebrates. The results not only provide a scientific basis for selective breeding in blood clams, but also offer deeper insights into the evolutionary mechanisms of RBTs in invertebrates.
泥蚶,俗称血蛤,具有一种独特的特征,即在无脊椎动物中拥有红色的血液。血蛤的血液颜色强度存在显著的个体差异;血液颜色鲜艳的个体被认为更健康,具有更强的抗压能力。然而,这些红色血液特征(RBTs)的分子基础仍知之甚少。
在这项研究中,我们对 300 个泥蚶个体进行了全基因组关联研究(GWAS),重点关注血红蛋白浓度(HC)、总血细胞计数(THC)和血红素浓度(HEME)等 RBTs。我们的分析确定了 18 个与 RBTs 相关的单核苷酸多态性(SNPs),随后在这些 SNPs 的 100kb 侧翼区域内选择了 117 个候选基因,这些基因可能与泥蚶的 RBTs 有关。此外,我们发现了两个与 THC 和 HEME 特异性相关的单倍型块。进一步的分析揭示了 8 个基因(Septin7、Hox5、Cbfa2t3、Avpr1b、Hhex、Eif2ak3、Glrk 和 Rpl35a)对 RBTs 有显著影响。值得注意的是,在 Cbfa2t3 的 3'UTR 中发现的一个杂合 A/T 突变可促进血细胞增殖。这些基因表明造血功能在泥蚶 RBTs 的变异性中起着重要作用。
我们的研究结果揭示了 RBTs 在血蛤和脊椎动物之间的调控机制的保守性。这些发现不仅为血蛤的选择性繁殖提供了科学依据,也深入了解了 RBTs 在无脊椎动物中的进化机制。