Pub Date : 2024-07-18DOI: 10.1134/s1062360424700036
E. V. Dementyeva, A. K. Zaytseva, J. M. Minina, O. V. Melnik, S. M. Zakian, A. A. Kostareva
Abstract
A combination of induced pluripotent stem cell (iPSC) technology and methods of nucleotide sequence editing allows clarifying contribution of genetic variants to human disease development. In this study, an iPSC line (ICGi045-A) of a RASopathy patient carrying a variant of unknown significance, c.985G>A (p.Glu329Lys) in SOS1, was generated. The ICGi045-A line displayed iPSC properties—similar morphology, expression of pluripotent state markers (OCT4, NANOG, SOX2, TRA-1-60), capacity to give rise to derivatives of three germ layers during spontaneous differentiation, and retained normal karyotype (46,XX). This line can be used for generating isogenic iPSC lines to find out clinical significance of c.985G>A (p.Glu329Lys) variant in SOS1.
{"title":"Generation of an Induced Pluripotent Stem Cell Line ICGi045-A of a RASopathy Patient Carrying p.Glu329Lys Variant in SOS1","authors":"E. V. Dementyeva, A. K. Zaytseva, J. M. Minina, O. V. Melnik, S. M. Zakian, A. A. Kostareva","doi":"10.1134/s1062360424700036","DOIUrl":"https://doi.org/10.1134/s1062360424700036","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>A combination of induced pluripotent stem cell (iPSC) technology and methods of nucleotide sequence editing allows clarifying contribution of genetic variants to human disease development. In this study, an iPSC line (ICGi045-A) of a RASopathy patient carrying a variant of unknown significance, c.985G>A (p.Glu329Lys) in <i>SOS1</i>, was generated. The ICGi045-A line displayed iPSC properties—similar morphology, expression of pluripotent state markers (OCT4, NANOG, SOX2, TRA-1-60), capacity to give rise to derivatives of three germ layers during spontaneous differentiation, and retained normal karyotype (46,XX). This line can be used for generating isogenic iPSC lines to find out clinical significance of c.985G>A (p.Glu329Lys) variant in <i>SOS1</i>.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"41 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141745803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-18DOI: 10.1134/s1062360424700012
S. N. Khurtina, S. A. Murzina, D. S. Provotorov, V. P. Voronin, A. E. Kuritsyn, N. N. Nemova
Abstract
The photoperiod is an important ecological factor synchronizing the endogenous rhythms of growth and development of the Atlantic salmon Salmo salar L. The changes in the FA content of phospholipids (PL) and triacylglycerols (TAG) during the growth and development of Atlantic salmon juveniles (fingerlings, parrs, and smolts) at different lighting and feeding regimes in aquaculture of the southern region (North Ossetia, Alania) were studied. A high content of saturated fatty acids (SFA) and a consistently high content of polyunsaturated fatty acids (PUFA) in PL (more than 40% of the total FA) were detected. An increase in the content of PUFA in TAG both in the salmon liver and in muscles during development from fingerlings to smolts indicated the biochemical changes in the fish organism preparing for smoltification and the transition to living in sea water. Among PUFA, n-3 PUFA dominated, while the content of n-6 PUFA was no more than 5% both in PL and TAG of juvenile salmon. At the same time, among PUFA the content of eicosapentaenoic acid 20:5(n-3) (EPA) in the muscles of both parrs and smolts was higher than in the liver, where docosapentaenoic acid 22:5(n-3) (DPA) dominated. The results of quantitative and qualitative changes in the FA components of lipids in juvenile salmon depending on changes in the lighting and feeding regimes are important for understanding the mechanisms of ecological and biochemical adaptations that determine the early development of salmon and its transition to the smoltification.
{"title":"Fatty Acid Content of Phospholipids and Triacylglycerols in Juvenile Atlantic Salmon Salmo salar L. Reared under Different Lighting and Feeding Regimes in Aquaculture (North Ossetia-Alania)","authors":"S. N. Khurtina, S. A. Murzina, D. S. Provotorov, V. P. Voronin, A. E. Kuritsyn, N. N. Nemova","doi":"10.1134/s1062360424700012","DOIUrl":"https://doi.org/10.1134/s1062360424700012","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The photoperiod is an important ecological factor synchronizing the endogenous rhythms of growth and development of the Atlantic salmon <i>Salmo salar</i> L. The changes in the FA content of phospholipids (PL) and triacylglycerols (TAG) during the growth and development of Atlantic salmon juveniles (fingerlings, parrs, and smolts) at different lighting and feeding regimes in aquaculture of the southern region (North Ossetia, Alania) were studied. A high content of saturated fatty acids (SFA) and a consistently high content of polyunsaturated fatty acids (PUFA) in PL (more than 40% of the total FA) were detected. An increase in the content of PUFA in TAG both in the salmon liver and in muscles during development from fingerlings to smolts indicated the biochemical changes in the fish organism preparing for smoltification and the transition to living in sea water. Among PUFA, n-3 PUFA dominated, while the content of n-6 PUFA was no more than 5% both in PL and TAG of juvenile salmon. At the same time, among PUFA the content of eicosapentaenoic acid 20:5(n-3) (EPA) in the muscles of both parrs and smolts was higher than in the liver, where docosapentaenoic acid 22:5(n-3) (DPA) dominated. The results of quantitative and qualitative changes in the FA components of lipids in juvenile salmon depending on changes in the lighting and feeding regimes are important for understanding the mechanisms of ecological and biochemical adaptations that determine the early development of salmon and its transition to the smoltification.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"181 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141737286","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-18DOI: 10.1134/s1062360424700048
E. V. Kondrateva, O. V. Grigorieva, E. V. Kurshakova, I. O. Panchuk, V. O. Pozhitnova, E. S. Voronina, V. Yu. Tabakov, I. P. Nikishina, S. V. Arsenyeva, V. G. Matkava, A. V. Lavrov, S. A. Smirnikhina, S. I. Kutsev
Abstract
Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disease caused by mutations in the ACVR1 gene for which there is currently no effective therapy. Therefore, obtaining iPSCs for further modeling and development of treatment methods, including gene therapy, can be very promising. The authors herein describe the generation of the induced pluripotent stem cell (iPSCs) line RCMGi014-A from urinary sediment cells of a patient with clinically expressed and genetically proven (ACVR1:c.6176G>A) FOP. These iPSCs proliferate in dense monolayer cell colonies, have a normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, TRA-1-60, SSEA-4), and show the ability to differentiate into three germ layers, which confirms their pluripotent status.
{"title":"Creation of Induced Pluripotent Stem Cells RCMGi014-A Using Reprogramming of Urine Cells of a Patient with Fibrodysplasia Ossificans Progressiva Associated with Heterozygous Mutation in the ACVR1 Gene","authors":"E. V. Kondrateva, O. V. Grigorieva, E. V. Kurshakova, I. O. Panchuk, V. O. Pozhitnova, E. S. Voronina, V. Yu. Tabakov, I. P. Nikishina, S. V. Arsenyeva, V. G. Matkava, A. V. Lavrov, S. A. Smirnikhina, S. I. Kutsev","doi":"10.1134/s1062360424700048","DOIUrl":"https://doi.org/10.1134/s1062360424700048","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Fibrodysplasia ossificans progressiva (FOP) is a severe genetic disease caused by mutations in the <i>ACVR1</i> gene for which there is currently no effective therapy. Therefore, obtaining iPSCs for further modeling and development of treatment methods, including gene therapy, can be very promising. The authors herein describe the generation of the induced pluripotent stem cell (iPSCs) line RCMGi014-A from urinary sediment cells of a patient with clinically expressed and genetically proven (<i>ACVR1</i>:c.6176G>A) FOP. These iPSCs proliferate in dense monolayer cell colonies, have a normal karyotype (46,XY), express pluripotency markers (OCT4, SOX2, TRA-1-60, SSEA-4), and show the ability to differentiate into three germ layers, which confirms their pluripotent status.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"57 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141745666","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-07-18DOI: 10.1134/s1062360424700024
G. V. Ermakova, A. V. Kucheryavyy, A. G. Zaraisky, A. V. Bayramov
Abstract
The foxg1 gene has been described as one of the key regulators of early differentiation and development of the vertebrate forebrain and related sensory organs. In this article, the authors describe for the first time the presence of three foxg1 paralogs in lampreys, representatives of Agnatha, one of the most evolutionarily ancient branches of vertebrates. While maintaining several common features, an expression patterns of foxg1 paralogs in lampreys demonstrate elements of spatial subfunctionalization. An assessment of the estimated timing of duplication of foxg1 lamprey genes suggests that these genes could have appeared as a result of two rounds of whole-genome duplications at the early stages of vertebrate evolution.
{"title":"Three Foxg1 Genes in Lampreys: The Heritage of Whole-Genome Duplications at the Early Stages of Vertebrate Evolution","authors":"G. V. Ermakova, A. V. Kucheryavyy, A. G. Zaraisky, A. V. Bayramov","doi":"10.1134/s1062360424700024","DOIUrl":"https://doi.org/10.1134/s1062360424700024","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The <i>foxg1</i> gene has been described as one of the key regulators of early differentiation and development of the vertebrate forebrain and related sensory organs. In this article, the authors describe for the first time the presence of three <i>foxg1</i> paralogs in lampreys, representatives of Agnatha, one of the most evolutionarily ancient branches of vertebrates. While maintaining several common features, an expression patterns of <i>foxg1</i> paralogs in lampreys demonstrate elements of spatial subfunctionalization. An assessment of the estimated timing of duplication of <i>foxg1</i> lamprey genes suggests that these genes could have appeared as a result of two rounds of whole-genome duplications at the early stages of vertebrate evolution.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"45 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141745804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1134/s1062360423070068
V. Y. Sysoeva, M. A. Lazarev, K. Y. Kulebyakin, E. V. Semina, K. A. Rubina
Abstract
Adipose tissue is a special type of connective tissue that comprises stromal-vascular cells, committed preadipocytes, and mature adipocytes. Adipose tissue exhibits high plasticity and is capable of both rapid physiological expansion and reduction in response to dietary changes. Under normal conditions, an increase in adipose tissue volume occurs through hyperplasia, while tissue expansion in obesity results from hypertrophy of existing adipocytes. Adipose tissue cells not only store energy in the form of triglycerides but also secrete crucial adipokines, regulating the overall body metabolism. In metabolic syndrome and obesity, alterations affect not only adipose tissue morphology but also adipocyte renewal and differentiation as well as the hormonal and secretory functions. The fundamental mechanisms regulating cell renewal and differentiation in adipose tissue warrant detailed investigation to comprehend the metabolic processes in the entire organism, both under normal and pathological conditions. This review provides insights into the principal regulators governing the transcriptional program that controls adipogenesis, as well as the key signaling cascades that influence adipocyte differentiation.
{"title":"Molecular and Cellular Mechanisms Governing Adipogenic Differentiation","authors":"V. Y. Sysoeva, M. A. Lazarev, K. Y. Kulebyakin, E. V. Semina, K. A. Rubina","doi":"10.1134/s1062360423070068","DOIUrl":"https://doi.org/10.1134/s1062360423070068","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Adipose tissue is a special type of connective tissue that comprises stromal-vascular cells, committed preadipocytes, and mature adipocytes. Adipose tissue exhibits high plasticity and is capable of both rapid physiological expansion and reduction in response to dietary changes. Under normal conditions, an increase in adipose tissue volume occurs through hyperplasia, while tissue expansion in obesity results from hypertrophy of existing adipocytes. Adipose tissue cells not only store energy in the form of triglycerides but also secrete crucial adipokines, regulating the overall body metabolism. In metabolic syndrome and obesity, alterations affect not only adipose tissue morphology but also adipocyte renewal and differentiation as well as the hormonal and secretory functions. The fundamental mechanisms regulating cell renewal and differentiation in adipose tissue warrant detailed investigation to comprehend the metabolic processes in the entire organism, both under normal and pathological conditions. This review provides insights into the principal regulators governing the transcriptional program that controls adipogenesis, as well as the key signaling cascades that influence adipocyte differentiation.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"142 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140200453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1134/s1062360423070032
E. V. Dementyeva, E. S. Klimenko, J. M. Minina, S. M. Zakian, A. A. Kostareva
Abstract
Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in RAF1 to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.
{"title":"Generation of an Induced Pluripotent Stem Cell Line ICGi046-A of a Patient Carrying Pathogenic p.Ser259Thr Variant in RAF1 Associated with RASopathy","authors":"E. V. Dementyeva, E. S. Klimenko, J. M. Minina, S. M. Zakian, A. A. Kostareva","doi":"10.1134/s1062360423070032","DOIUrl":"https://doi.org/10.1134/s1062360423070032","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Technology of generation of induced pluripotent stem cells followed by differentiation into relevant cell type allows obtaining cell models for studying various inherited human diseases. In the study, an induced pluripotent stem cell (iPSC) line (ICGi046-A) was generated as a result of reprogramming of mononuclear cells of a RASopathy patient carrying pathogenic c.775T>A (p.Ser259Thr) variant in <i>RAF1</i> to the pluripotent state. The ICGi046-A line demonstrated morphology characteristic of human pluripotent cells, normal karyotype (46,XY), expression of pluripotency markers (OCT4, NANOG, SOX2, TRA-1-60), and capacity to give rise to derivatives of three germ layers during spontaneous differentiation. The iPSC line can be used for studying molecular mechanisms of RASopathies.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"43 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140200537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-23DOI: 10.1134/s106236042307007x
D. I. Zhigalina, T. N. Kireeva, T. V. Nikitina, O. N. Odinokova, N. A. Kolesnikov, A. A. Malakhova, R. R. Savchenko, I. Zh. Zhalsanova, N. R. Valiahmetov, A. E. Postrigan, S. L. Vovk, N. B. Torkhova, A. A. Frolova, V. A. Stepanov, N. A. Skryabin
Abstract
Cystic fibrosis (CF) is a hereditary disease that leads to impaired functioning of chloride channels in cells, and, as a result, to a decrease in the viscoelastic properties of the secretion of all exocrine glands. Cystic fibrosis is the result of mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which encodes the CFTR protein. In this study, induced pluripotent stem cells (iPSCs) were obtained from the skin fibroblasts of a patient with a homozygous mutation F508del CFTR (NM_000492.3(CFTR):c.1521_1523del). This deletion is the most common for cystic fibrosis. The resulting iPSC line had a normal karyotype, retained the original genotype, and also demonstrated the presence of pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60) and the ability to differentiate into derivatives of three germ layers.
{"title":"Generation of an Induced Pluripotent Stem Cell Line TNRMCi001-A by Reprogramming Fibroblasts from a Homozygous F508del Cystic Fibrosis Patient","authors":"D. I. Zhigalina, T. N. Kireeva, T. V. Nikitina, O. N. Odinokova, N. A. Kolesnikov, A. A. Malakhova, R. R. Savchenko, I. Zh. Zhalsanova, N. R. Valiahmetov, A. E. Postrigan, S. L. Vovk, N. B. Torkhova, A. A. Frolova, V. A. Stepanov, N. A. Skryabin","doi":"10.1134/s106236042307007x","DOIUrl":"https://doi.org/10.1134/s106236042307007x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>Cystic fibrosis (CF) is a hereditary disease that leads to impaired functioning of chloride channels in cells, and, as a result, to a decrease in the viscoelastic properties of the secretion of all exocrine glands. Cystic fibrosis is the result of mutations in the cystic fibrosis transmembrane conductance regulator (<i>CFTR</i>) gene, which encodes the CFTR protein. In this study, induced pluripotent stem cells (iPSCs) were obtained from the skin fibroblasts of a patient with a homozygous mutation F508del <i>CFTR</i> (NM_000492.3(CFTR):c.1521_1523del). This deletion is the most common for cystic fibrosis. The resulting iPSC line had a normal karyotype, retained the original genotype, and also demonstrated the presence of pluripotency markers (OCT4, SOX2, NANOG, SSEA4, TRA-1-60) and the ability to differentiate into derivatives of three germ layers.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"30 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140200450","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-07DOI: 10.1134/s106236042306005x
V. V. Konduktorova, E. G. Fofanova, D. A. Nikishin
Abstract
The germes gene is a marker of germ plasm and primordial germ cells (PGC). It is described for the African clawed frog Xenopus laevis. Overexpression of its mutant form negatively affects the formation and migration of PGC. However, it was unknown until now how widely this gene is represented in animals of different phylogenetic groups. For this work, the authors performed bioinformatic analysis of genomic and transcriptome sequences of animals with germ plasm. We found out that the germes homologs are present only in representatives of the genera Xenopus and Hymenochirus of the family Pipidae (order Anura). The obtained results were confirmed by RT-PCR analysis of the expression of the germes orthologs in the ovaries of six representatives of different Anura families. Phylogenetic analysis of cloned sequences of the germes homologs suggests the appearance of this gene in the ancestors of Pipidae and its secondary loss in the genus Pseudohymenochirus. It is also shown that the amino acid sequences of the functional domains of the Germes protein are rather conservative.
摘要 germes基因是种质和原始生殖细胞（PGC）的标记。非洲爪蛙（Xenopus laevis）描述了该基因。过量表达其突变体形式会对 PGC 的形成和迁移产生负面影响。然而，直到现在，人们还不知道该基因在不同系统发育群动物中的广泛分布情况。为此，作者对具有种质的动物的基因组和转录组序列进行了生物信息学分析。我们发现，胚芽同源物只存在于琵琶科（无尾目）的爪蟾属和绣眼蟾属的代表动物中。我们通过 RT-PCR 分析了胚芽同源物在六种不同无尾目动物卵巢中的表达情况，证实了上述结果。对克隆的胚芽同源物序列进行的系统进化分析表明，该基因出现在琵琶科的祖先中，并在伪门蛛属中继发消失。研究还表明，Germes 蛋白功能域的氨基酸序列相当保守。
{"title":"The Distribution of the Germ Plasm Gene germes among Anurans","authors":"V. V. Konduktorova, E. G. Fofanova, D. A. Nikishin","doi":"10.1134/s106236042306005x","DOIUrl":"https://doi.org/10.1134/s106236042306005x","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstract</h3><p>The <i>germes</i> gene is a marker of germ plasm and primordial germ cells (PGC). It is described for the African clawed frog <i>Xenopus laevis</i>. Overexpression of its mutant form negatively affects the formation and migration of PGC. However, it was unknown until now how widely this gene is represented in animals of different phylogenetic groups. For this work, the authors performed bioinformatic analysis of genomic and transcriptome sequences of animals with germ plasm. We found out that the <i>germes</i> homologs are present only in representatives of the genera <i>Xenopus</i> and <i>Hymenochirus</i> of the family Pipidae (order Anura). The obtained results were confirmed by RT-PCR analysis of the expression of the <i>germes</i> orthologs in the ovaries of six representatives of different Anura families. Phylogenetic analysis of cloned sequences of the <i>germes</i> homologs suggests the appearance of this gene in the ancestors of Pipidae and its secondary loss in the genus <i>Pseudohymenochirus</i>. It is also shown that the amino acid sequences of the functional domains of the Germes protein are rather conservative.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"53 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140071710","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-07DOI: 10.1134/s1062360423060036
D. Yu. Baranova, A. A. Akishina, R. O. Cherezov, D. A. Kulikova, I. B. Mertsalov, O. B. Simonova, J. E. Vorontsova
Abstact
—The aryl hydrocarbon receptor (AHR) is a ligand-dependent transcription factor and its target genes play a fundamental role in detoxification, regulation of developmental processes, maintenance of homeostasis, and in the occurrence of oncological and autoimmune diseases and drug metabolism. The high conservatism of vertebrate AHR allowed us to study its functions in vivo using transformed Drosophilamelanogaster fruit flies with human or mouse AHR gene and compare the ectopic effect of their expression with the expression of spineless gene, Drosophila AHR homologue. This work demonstrates for the first time that vertebrate AHR exhibits its functional activity in Drosophila embryogenesis, in leg imaginal discs, and in somatic cells of the female reproductive system in the absence of exogenous ligands.
{"title":"Ectopic Expression of Human, Mouse, and Fruit Fly Aryl Hydrocarbon Receptor in Drosophila melanogaster Tissues","authors":"D. Yu. Baranova, A. A. Akishina, R. O. Cherezov, D. A. Kulikova, I. B. Mertsalov, O. B. Simonova, J. E. Vorontsova","doi":"10.1134/s1062360423060036","DOIUrl":"https://doi.org/10.1134/s1062360423060036","url":null,"abstract":"<h3 data-test=\"abstract-sub-heading\">Abstact</h3><p>—The aryl hydrocarbon receptor (AHR) is a ligand-dependent transcription factor and its target genes play a fundamental role in detoxification, regulation of developmental processes, maintenance of homeostasis, and in the occurrence of oncological and autoimmune diseases and drug metabolism. The high conservatism of vertebrate AHR allowed us to study its functions in vivo using transformed <i>Drosophila</i> <i>melanogaster</i> fruit flies with human or mouse AHR gene and compare the ectopic effect of their expression with the expression of <i>spineless</i> gene, <i>Drosophila</i> AHR homologue. This work demonstrates for the first time that vertebrate AHR exhibits its functional activity in <i>Drosophila</i> embryogenesis, in leg imaginal discs, and in somatic cells of the female reproductive system in the absence of exogenous ligands.</p>","PeriodicalId":21434,"journal":{"name":"Russian Journal of Developmental Biology","volume":"121 1","pages":""},"PeriodicalIF":0.7,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140071993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-03-07DOI: 10.1134/s1062360423060048
E. A. Khomyakova, A. V. Fedorenko, A. V. Surdina, E. A. Volovikov, L. D. Belikova, E. A. Zerkalenkova, M. A. Lagarkova, A. N. Bogomazova
Abstract
The deletions and mutations in the UBE2A gene cause X-linked mental retardation syndrome of the Nascimento type first described in 2006 (Nascimento et al., 2006). At the moment, approximately two dozen missense and nonsense mutations in the UBE2A gene associated with Nascimento-type mental retardation syndrome are known (Cordeddu et al., 2020). To study the role of the UBE2A gene in neurodevelopment, the authors generated a human iPSC line with knockout of the UBE2A gene (RCPCMi009-A-1) using genome editing CRISPR/Cas9 technology. The knockout of the UBE2A gene was confirmed by Western blotting. The pluripotent state of the RCPCMi009-A-1 iPSC line was confirmed by typical stem cell morphology, normal male karyotype (46,XY) maintenance, expression of pluripotency markers, and the ability to differentiate into the derivatives of three germ layers.
摘要 UBE2A 基因的缺失和突变导致了 2006 年首次描述的纳西门托型 X 连锁智力低下综合征（Nascimento et al.）目前，已知与纳西门托型智力低下综合征相关的 UBE2A 基因错义突变和无义突变约有二十多种（Cordeddu 等人，2020 年）。为了研究 UBE2A 基因在神经发育过程中的作用，作者利用基因组编辑 CRISPR/Cas9 技术生成了敲除 UBE2A 基因的人类 iPSC 株系（RCPCMi009-A-1）。UBE2A 基因的敲除是通过 Western 印迹法确认的。RCPCMi009-A-1 iPSC株的多能状态通过典型的干细胞形态、正常男性核型（46,XY）的维持、多能性标记的表达以及分化成三个生殖层衍生物的能力得到了证实。
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