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The construction of genetics teaching resources related to colour blindness and their application in genetics teaching. 与色盲有关的遗传学教学资源建设及其在遗传学教学中的应用。
Q3 Medicine Pub Date : 2024-04-20 DOI: 10.16288/j.yczz.24-017
Chun-Xiao Mao

Red-green colour blindness is a classic example for the teaching of X-linked recessive inheritance in genetics course. However, there are lots of types of color vision deficiencies besides red-green colour blindness. Different color vision deficiencies caused by different genes may have different modes of inheritance. In recent years, many research achievements on colour blindness have been made. These achievements could be used as teaching resources in genetics course. Here, we summarize the construction of genetics teaching resources related to colour blindness and their application in genetics teaching in several chapters such as introduction, cellular and molecular basis of genetics, sex-linked inheritance, chromosomal aberration, gene mutation and advances in genetics. Teacher could use the resources in class or after class with different teaching methods such as questioning teaching method and task method. It may expand students' academic horizons and inspire students' interest in genetics besides grasping basic genetic knowledge.

红绿色盲是遗传学课程中讲授 X 连锁隐性遗传的经典案例。然而,除了红绿色盲之外,色觉缺陷还有很多类型。由不同基因引起的色觉缺陷可能有不同的遗传方式。近年来,有关色盲的研究取得了很多成果。这些成果可以作为遗传学课程的教学资源。在此,我们从绪论、遗传学的细胞和分子基础、性连锁遗传、染色体畸变、基因突变和遗传学进展等几个章节,总结了与色盲有关的遗传学教学资源的建设及其在遗传学教学中的应用。教师可在课堂上或课后使用这些资源,配合不同的教学方法,如提问教学法和任务教学法。除掌握基本遗传学知识外,还可拓展学生的学术视野,激发学生对遗传学的兴趣。
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引用次数: 0
Early embryonic polarity establishment and implications for lineage differentiation. 早期胚胎极性的建立及其对系分化的影响。
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.23-268
Yi Zhu, Xue-Qin Chen, Li-Zhi Leng, Ge Lin

Polarity establishment is one of the key factors affecting early embryonic development. Polarity establishment begins with myosin phosphorylation in the 8-cell embryo, and phosphorylation activates actin leading to its initiation of contractility. Subsequently, actin undergoes reorganization to form an apical domain rich in microvilli on the non-contacting surface of each blastomere, and form the actomyosin ring that marks the maturation of the apical domain in conjunction with polar protein complexes and others. From the process of polarity establishment, it can be seen that the formation of the apical domain is influenced by actin-related proteins and polar protein complexes. Some zygote genome activation (ZGA) and lineage-specific genes also regulate polarity establishment. Polarity establishment underlies the first cell lineage differentiation during early embryonic development. It regulates lineage segregation and morphogenesis by affecting asymmetric cell division, asymmetric localization of lineage differentiation factors, and activity of the Hippo signaling pathway. In this review, we systematically summarize the mechanisms of early embryonic polarity establishment and its impact on lineage differentiation in mammals, and discuss the shortcomings of the currently available studies in terms of regulatory mechanisms and species, thereby providing clues and systematic perspectives for elucidating early embryonic polarity establishment.

极性的建立是影响早期胚胎发育的关键因素之一。极性的建立始于 8 细胞胚胎中肌球蛋白的磷酸化,磷酸化激活肌动蛋白,使其开始收缩。随后,肌动蛋白发生重组,在每个胚泡的非接触表面形成富含微绒毛的顶端结构域,并与极性蛋白复合物等共同形成肌动蛋白环,标志着顶端结构域的成熟。从极性建立的过程可以看出,顶端结构域的形成受到肌动蛋白相关蛋白和极性蛋白复合物的影响。一些子代基因组激活(ZGA)基因和特定品系基因也调控极性的形成。极性的建立是胚胎早期发育过程中第一个细胞系分化的基础。它通过影响非对称细胞分裂、系分化因子的非对称定位以及 Hippo 信号通路的活性来调控系的分离和形态发生。在这篇综述中,我们系统地总结了哺乳动物早期胚胎极性建立的机制及其对系分化的影响,并讨论了目前现有研究在调控机制和物种方面的不足,从而为阐明早期胚胎极性建立提供线索和系统的视角。
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引用次数: 0
Frontiers of soybean pan-genome studies. 大豆泛基因组研究的前沿。
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.23-321
Yu-Cheng Liu, Yan-Ting Shen, Zhi-Xi Tian

Artificial domestication provided the original motivation to the blooming of agriculture, following with the dramatic change of the genetic background of crops and livestock. According to theory and technology upgradation that contributing to the omics, we appreciate using the pan-genome instead of single reference genome for crop study. By comparison and integration of multiple genomes under the guidance of pan-genome theory, we can estimate the genomic information range of a species, leading to a global understanding of its genetic diversity. Combining pan-genome with large size chromosomal structural variations, high throughput population resequencing, and multi-omics data, we can profoundly study the genetic basis behind species traits we focus on. Soybean is one of the most important commercial crops over the world. It is also essential to our food security. Dissecting the formation of genetic diversity and the causal loci of key agricultural traits of soybean will make the modern soybean breeding more efficiently. In this review, we summarize the core idea of pan-genome and clarified the characteristics of construction strategies of pan-genome such as de novo/mapping assembly, iterative assembly and graph-based genome. Then we used the soybean pan-genome work as a case study to introduce the general way to study pan-genome. We highlighted the contribution of structural variation (SV) to the evolution/domestication of soybean and its value in understanding the genetic bases of agronomy traits. By those, we approved the value of graph-based pan-genome for data integration and SV calculation. Future research directions are also discussed for crop genomics and data science.

人工驯化为农业的蓬勃发展提供了原始动力,随之而来的是作物和牲畜遗传背景的巨大变化。随着全基因组学理论和技术的发展,我们更倾向于使用泛基因组而非单一参考基因组来研究作物。在泛基因组理论指导下,通过对多个基因组的比较和整合,我们可以估算出一个物种的基因组信息范围,从而对其遗传多样性有一个全面的了解。将泛基因组与大尺寸染色体结构变异、高通量群体重测序和多组学数据相结合,我们可以深入研究我们关注的物种性状背后的遗传基础。大豆是世界上最重要的经济作物之一。它对我们的粮食安全也至关重要。剖析大豆遗传多样性的形成和关键农业性状的因果位点将使现代大豆育种更加高效。在这篇综述中,我们总结了泛基因组的核心思想,阐明了从头/图谱组装、迭代组装和基于图谱的基因组等泛基因组构建策略的特点。然后,我们以大豆泛基因组研究为例,介绍了泛基因组研究的一般方法。我们强调了结构变异(SV)对大豆进化/驯化的贡献及其在理解农艺性状遗传基础方面的价值。由此,我们认可了基于图的泛基因组在数据整合和 SV 计算方面的价值。我们还讨论了作物基因组学和数据科学的未来研究方向。
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引用次数: 0
N6-adenosine methylation and the regulatory mechanism on LINE-1. N6-腺苷甲基化与 LINE-1 的调控机制
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.23-248
Ao Zhang, Shan Cen, Xiao-Yu Li

Long interspersed elements-1(LINE-1) is the only autonomous transposon in human genome,and its retrotransposition results in change of cellular genome structure and function, leading occurrence of various severe diseases. As a central key intermediated component during life cycle of LINE-1 retrotransposition, the host modification of LINE-1 mRNA affects the LINE-1 transposition directly. N6-adenosine methylation(m6A), the most abundant epigenetic modification on eukaryotic RNA, is dynamically reversible. m6A modification is also found on LINE-1 mRNA, and it participants regulation of the whole LINE-1 replication cycle, with affecting LINE-1 retrotransposition as well as its adjacent genes expression, followed by influencing genomic stability, cellular self-renewal, and differentiation potential, which plays important roles in human development and diseases. In this review, we summarize the research progress in LINE-1 m6A modification, including its modification positions, patterns and related mechanisms, hoping to provide a new sight on the mechanism research and treatment of related diseases.

长穿插元件-1(LINE-1)是人类基因组中唯一的自主转座子,它的逆转录会导致细胞基因组结构和功能的改变,导致各种严重疾病的发生。作为LINE-1逆转录过程中的核心关键中间环节,宿主对LINE-1 mRNA的修饰直接影响着LINE-1的转位。N6-腺苷甲基化(m6A)是真核RNA上最丰富的表观遗传修饰,具有动态可逆性。m6A修饰也存在于LINE-1 mRNA上,它参与调控整个LINE-1复制周期,影响LINE-1逆转录及其邻近基因的表达,进而影响基因组稳定性、细胞自我更新和分化潜能,在人类发育和疾病中发挥着重要作用。在这篇综述中,我们总结了LINE-1 m6A修饰的研究进展,包括其修饰位置、模式和相关机制,希望能为相关疾病的机制研究和治疗提供新的视角。
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引用次数: 0
Effect of mutation at c.493T>C locus of transcription factor HNF1α gene on its protein level. 转录因子 HNF1α 基因 c.493T>C 位点突变对其蛋白水平的影响
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.23-274
Shu-Jie Liang, Yi-Hua Peng, Jia-Hong Lei, Ai-Min Jia, Hong Jiang, Yan Cai

Hepatocyte nuclear factor 1α (HNF1α) is a transcription factor that is crucial for the regulation to maintain the function of pancreatic β-cell, hepatic lipid metabolism, and other processes. Mature-onset diabetes of the young type 3 is a monogenic form of diabetes caused by HNF1α mutations. Although several mutation sites have been reported, the specific mechanisms remain unclear, such hot-spot mutation as the P291fsinsC mutation and the P112L mutation and so on. In preliminary studies, we discovered one MODY3 patient carrying a mutation at the c.493T>C locus of the HNF1α gene. In this study, we analyzed the pathogenic of the mutation sites by using the Mutation Surveyor software and constructed the eukaryotic expression plasmids of the wild-type and mutant type of HNF1α to detect variations in the expression levels and stability of HNF1α protein by using Western blot. The analyses of the Mutation Surveyor software showed that the c.493T>C site mutation may be pathogenic gene and the results of Western blot showed that both the amount and stability of HNF1α protein expressed by the mutation type plasmid were reduced significantly compared to those by the wild type plasmid (P<0.05). This study suggests that the c.493T>C (p.Trp165Arg) mutation dramatically impacts HNF1α expression, which might be responsible for the development of the disease and offers fresh perspectives for the following in-depth exploration of MODY3's molecular pathogenic process.

肝细胞核因子1α(HNF1α)是一种转录因子,对维持胰岛β细胞功能、肝脏脂质代谢等过程的调节至关重要。早幼型糖尿病 3 型是一种由 HNF1α 基因突变引起的单基因糖尿病。虽然已有多个突变位点的报道,但具体机制仍不清楚,如P291fsinsC突变和P112L突变等热点突变。在初步研究中,我们发现了一名携带 HNF1α 基因 c.493T>C 位点突变的 MODY3 患者。在本研究中,我们利用 Mutation Surveyor 软件分析了突变位点的致病性,并构建了 HNF1α 野生型和突变型的真核表达质粒,利用 Western 印迹法检测 HNF1α 蛋白的表达水平和稳定性的变化。Mutation Surveyor软件的分析结果表明,c.493T>C位点突变可能是致病基因,Western blot的结果表明,突变型质粒表达的HNF1α蛋白的量和稳定性都比野生型质粒明显降低(PC(p.Trp165Arg)突变极大地影响了HNF1α的表达,可能是该病发病的原因,为接下来深入探讨MODY3的分子致病过程提供了新的视角。
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引用次数: 0
Progress on CRISPR/Cas9 system in the genetic improvement of livestock and poultry. CRISPR/Cas9 系统在畜禽遗传改良方面的进展。
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.24-021
Yan-Chun Bao, Ling-Li Dai, Zai-Xia Liu, Feng-Ying Ma, Yu Wang, Yong-Bin Liu, Ming-Juan Gu, Ri-Su Na, Wen-Guang Zhang

CRISPR/Cas9 gene editing technology, as a highly efficient genome editing method, has been extensively employed in the realm of animal husbandry for genetic improvement. With its remarkable efficiency and precision, this technology has revolutionized the field of animal husbandry. Currently, CRISPR/Cas9-based gene knockout, gene knock-in and gene modification techniques are widely employed to achieve precise enhancements in crucial production traits of livestock and poultry species. In this review, we summarize the operational principle and development history of CRISPR/Cas9 technology. Additionally, we highlight the research advancements utilizing this technology in muscle growth and development, fiber growth, milk quality composition, disease resistance breeding, and animal welfare within the livestock and poultry sectors. Our aim is to provide a more comprehensive understanding of the application of CRISPR/Cas9 technology in gene editing for livestock and poultry.

CRISPR/Cas9 基因编辑技术作为一种高效的基因组编辑方法,已被广泛应用于畜牧业的基因改良领域。该技术以其卓越的效率和精确性,在畜牧业领域掀起了一场革命。目前,基于CRISPR/Cas9的基因敲除、基因敲入和基因修饰技术已被广泛应用于实现畜禽物种关键生产性状的精确改良。在本综述中,我们总结了 CRISPR/Cas9 技术的工作原理和发展历史。此外,我们还重点介绍了利用该技术在畜禽领域的肌肉生长与发育、纤维生长、牛奶质量成分、抗病育种和动物福利方面取得的研究进展。我们的目的是让大家更全面地了解 CRISPR/Cas9 技术在畜禽基因编辑方面的应用。
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引用次数: 0
Generation and analysis of TPI deficiency zebrafish model. 生成并分析 TPI 缺乏症斑马鱼模型。
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.23-316
Piao Sun, Ying Li, Fan Liu, Lu Wang

Triosephosphate isomerase deficiency (TPI DF) is a severe multisystem degenerative disease, manifested clinically as hemolytic anemia, neuromuscular abnormalities, and susceptibility to infection, frequently leading to death within 5 years of onset. There is a lack of effective clinical treatment as the pathogenesis underlying TPI DF remains largely unknown. In this study, we generate a transgenic zebrafish line [Tg(Ubi:TPI1E105D-eGFP)] with the human TPI1E105D (hTPI1E105D) mutation, which is the most recurrent mutation in TPI DF patients. Overexpression of hTPI1E105D affects the development of erythroid and myeloid cells and leads to impaired neural and muscular development. In conclusion, we create a TPI DF zebrafish model to recapitulate the majority clinical features of TPI DF patients, providing a new animal model for pathogenesis study and drug screening of TPI DF.

三磷酸异构酶缺乏症(TPI DF)是一种严重的多系统变性疾病,临床表现为溶血性贫血、神经肌肉异常和易感染,通常在发病后5年内死亡。由于 TPI DF 的发病机理尚不清楚,临床上缺乏有效的治疗方法。在本研究中,我们产生了一种带有人类 TPI1E105D(hTPI1E105D)突变的转基因斑马鱼品系[Tg(Ubi:TPI1E105D-eGFP)]。过表达 hTPI1E105D 会影响红细胞和类红细胞的发育,并导致神经和肌肉发育受损。总之,我们创建的TPI DF斑马鱼模型再现了TPI DF患者的大部分临床特征,为TPI DF的发病机制研究和药物筛选提供了一种新的动物模型。
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引用次数: 0
Genome-wide identification of GRF transcription factors and their expression profile in stem meristem of broomcorn millet (Panicum miliaceum L.). GRF转录因子的全基因组鉴定及其在锦鸡儿粟(Panicum miliaceum L.)茎分生组织中的表达谱。
Q3 Medicine Pub Date : 2024-03-20 DOI: 10.16288/j.yczz.23-210
Heng Wei, Tian-Peng Liu, Ji-Hong He, Kong-Jun Dong, Rui-Yu Ren, Lei Zhang, Ya-Wei Li, Zi-Yi Hao, Tian-Yu Yang

To understand the genome-wide information of the GRF family genes in broomcorn millet and their expression profile in the vegetative meristems, bioinformatic methods and transcriptome sequencing were used to analyze the characteristics, physical and chemical properties, phylogenetic relationship, chromosome distribution, gene structure, cis-acting elements and expression profile in stem meristem for the GRF family members. The results showed that the GRF gene family of millet contains 21 members, and the PmGRF gene is unevenly distributed on 12 chromosomes. The lengths of PmGRF proteins vary from 224 to 618 amino acids, and the isoelectric points are between 4.93-9.69. Each member of the family has 1-4 introns and 2-5 exons. The protein PmGRF13 is localized in both the nucleus and chloroplast, and the rest PmGRF proteins are located in the nucleus. Phylogenetic analysis showed that the 21 GRF genes were divided into 4 subfamilies (A,B,C and D) in broomcorn millet. The analysis of cis-acting elements showed that there were many cis-acting elements involved in light response, hormone response, drought induction, low temperature response and other environmental stress responses in the 2000 bp sequence upstream of the GRF genes. Transcriptome sequencing and qRT-PCR analyses showed that the expression levels of PmGRF3 and PmGRF12 in the dwarf variety Zhang778 were significantly higher than those of the tall variety Longmi12 in the internode and node meristems at the jointing stage, while the expression patterns of PmGRF4, PmGRF16 and PmGRF21 were reverse. In addition, the expression levels of PmGRF2 and PmGRF5 in the internode of Zhang778 were significantly higher than Longmi12. The other GRF genes were not or insignificantly expressed. These results indicated that seven genes, PmGRF2, PmGRF3, PmGRF4, PmGRF5, PmGRF12, PmGRF16 and PmGRF21, were related to the formation of plant height in broomcorn millet.

为了解扫帚粟GRF家族基因的全基因组信息及其在无性分生组织中的表达谱,采用生物信息学方法和转录组测序,分析了GRF家族成员的特征、理化性质、系统发育关系、染色体分布、基因结构、顺式作用元件和在茎分生组织中的表达谱。结果表明,小米GRF基因家族共有21个成员,其中PmGRF基因不均匀地分布在12条染色体上。PmGRF 蛋白的长度在 224 至 618 个氨基酸之间,等电点在 4.93-9.69 之间。该家族的每个成员都有 1-4 个内含子和 2-5 个外显子。PmGRF13 蛋白定位于细胞核和叶绿体,其余 PmGRF 蛋白定位于细胞核。系统进化分析表明,21 个 GRF 基因在黍中被分为 4 个亚科(A、B、C 和 D)。顺式作用元件分析表明,在GRF基因上游的2000 bp序列中有许多顺式作用元件,涉及光反应、激素反应、干旱诱导、低温反应和其他环境胁迫反应。转录组测序和qRT-PCR分析表明,矮生品种张778的PmGRF3和PmGRF12在节间和节间分生组织中的表达水平显著高于高生品种龙米12,而PmGRF4、PmGRF16和PmGRF21的表达模式则相反。此外,PmGRF2 和 PmGRF5 在张778节间的表达水平明显高于龙米12。其他 GRF 基因没有表达或表达不明显。这些结果表明,PmGRF2、PmGRF3、PmGRF4、PmGRF5、PmGRF12、PmGRF16和PmGRF21这7个基因与黍株高的形成有关。
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引用次数: 0
Progress on the quality control technology of next generation sequencing library. 新一代测序文库质量控制技术的进展。
Q3 Medicine Pub Date : 2024-02-20 DOI: 10.16288/j.yczz.23-262
Meng-Nan Cui, Yan Guo, Ya-Rong Wu, Guang-Qian Pei, Yu-Jun Cui

As a key supporting technology in the fields of life sciences and medicine, high-throughput sequencing has developed rapidly and become increasingly mature. The workflow of this technology can be divided into nucleic acid extraction, library construction, sequencing, and data analysis. Among these, library construction is a pivotal step that bridges the previous and subsequent stages. The effectiveness of library construction is contingent on the quality of upstream samples and also impacts the data analysis following sequence data output. The selection and implementation of library construction quality control techniques are crucial for enhancing the reliability of results and reducing errors in sequencing data. This review provides an in-depth discussion of library construction quality control techniques, summarizing and evaluating their principles, advantages and disadvantages, and applicability. It also discusses the selection of relevant technologies in practical application scenarios. The aim is to offer theoretical foundations and references for researchers, disease prevention and control personnel, and others when choosing library quality control techniques, thereby promoting the quality and efficiency of high-throughput sequencing work.

作为生命科学和医学领域的关键支撑技术,高通量测序技术发展迅速,日趋成熟。该技术的工作流程可分为核酸提取、文库构建、测序和数据分析。其中,文库构建是衔接前后阶段的关键步骤。文库构建的效果取决于上游样本的质量,同时也影响到序列数据输出后的数据分析。选择和实施文库构建质量控制技术对提高结果可靠性和减少测序数据误差至关重要。本综述深入探讨了文库构建质量控制技术,总结并评估了其原理、优缺点和适用性。它还讨论了在实际应用场景中如何选择相关技术。旨在为科研人员、疾病防控人员等在选择文库质量控制技术时提供理论依据和参考,从而提高高通量测序工作的质量和效率。
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引用次数: 0
Choroid plexus and its relations with age-related diseases. 脉络丛及其与老年性疾病的关系。
Q3 Medicine Pub Date : 2024-02-20 DOI: 10.16288/j.yczz.23-294
Yun-Fei Yang, Yi-Dong Shen

The choroid plexus is composed of epithelial cells situated on the basal layer. The tight junctions between adjacent choroid plexus epithelial cells establish the blood-cerebrospinal fluid barrier. This barrier, in conjunction with the blood-brain barrier, is crucial for the homeostasis of the brain microenvironment. The choroid plexus epithelium secretes cerebrospinal fluid, growth factors, neuropeptides, and lipids into the ventricles and also serves as a gateway for immune cells to enter the brain. The pathophysiology of aging and neurodegenerative diseases remains largely enigmatic, with an increasing body of research linking the choroid plexus to the etiology of these age-related disorders. In this review, we summarize the known relationship between the choroid plexus epithelium and age-related diseases, aiming to provide new therapeutic clues for these disorders.

脉络丛由位于基底层的上皮细胞组成。相邻脉络丛上皮细胞之间的紧密连接建立了血-脑脊液屏障。这一屏障与血脑屏障一起,对大脑微环境的平衡至关重要。脉络丛上皮细胞向脑室分泌脑脊液、生长因子、神经肽和脂质,同时也是免疫细胞进入大脑的通道。衰老和神经退行性疾病的病理生理学在很大程度上仍然是个谜,越来越多的研究将脉络丛与这些与年龄有关的疾病的病因联系起来。在这篇综述中,我们总结了脉络丛上皮细胞与老年相关疾病之间的已知关系,旨在为这些疾病提供新的治疗线索。
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