Bio-X Institutes, Key Laboratory for the Genetics of Development and Neuropsychiatric Disorders (Ministry of Education), Shanghai Key Laboratory of Psychotic Disorders, and Brain Science and Technology Research Center, Shanghai Jiao Tong University, Shanghai 200240, China.
Institute of Psychology and Behavioral Science, Shanghai Jiao Tong University, Shanghai 200030, China.
Zool Res. 2023 Sep 18;44(5):837-847. doi: 10.24272/j.issn.2095-8137.2022.514.
The common marmoset ( ) has emerged as a valuable nonhuman primate model in biomedical research with the recent release of high-quality reference genome assemblies. Epileptic marmosets have been independently reported in two Asian primate research centers. Nevertheless, the population genetics within these primate centers and the specific genetic variants associated with epilepsy in marmosets have not yet been elucidated. Here, we characterized the genetic relationships and risk variants for epilepsy in 41 samples from two epileptic marmoset pedigrees using whole-genome sequencing. We identified 14 558 184 single nucleotide polymorphisms (SNPs) from the 41 samples and found higher chimerism levels in blood samples than in fingernail samples. Genetic analysis showed fourth-degree of relatedness among marmosets at the primate centers. In addition, SNP and copy number variation (CNV) analyses suggested that the WW domain-containing oxidoreductase ( ) and Tyrosine-protein phosphatase nonreceptor type 21 ( ) genes may be associated with epilepsy in marmosets. Notably, gene deletion was more common in epileptic marmosets than control marmosets. This study provides valuable population genomic resources for marmosets in two Asian primate centers. Genetic analyses identified a reasonable breeding strategy for genetic diversity maintenance in the two centers, while the case-control study revealed potential risk genes/variants associated with epilepsy in marmosets.
普通狨猴（）作为一种有价值的非人类灵长类动物模型，在生物医学研究中得到了广泛应用，最近发布了高质量的参考基因组图谱。在两个亚洲灵长类动物研究中心已经独立报道了癫痫狨猴。然而，这些灵长类动物中心内的群体遗传学以及与狨猴癫痫相关的特定遗传变异尚未阐明。在这里，我们使用全基因组测序对来自两个癫痫狨猴家系的 41 个样本进行了遗传关系和癫痫风险变异的特征分析。我们从 41 个样本中鉴定出了 14,558,184 个单核苷酸多态性（SNP），并发现血液样本中的嵌合水平高于指甲样本。遗传分析表明，灵长类动物中心的狨猴之间存在第四级亲缘关系。此外，SNP 和拷贝数变异（CNV）分析表明，WW 结构域氧化还原酶（）和酪氨酸蛋白磷酸酶非受体型 21（）基因可能与狨猴癫痫有关。值得注意的是，基因缺失在癫痫狨猴中比对照狨猴更为常见。本研究为两个亚洲灵长类动物中心的狨猴提供了有价值的群体基因组资源。遗传分析为两个中心的遗传多样性维持确定了合理的繁殖策略，而病例对照研究则揭示了与狨猴癫痫相关的潜在风险基因/变异。
