Cytogenetic and Genome Research最新文献

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Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat. 全基因组测序在一名患有神经发育障碍和inv(6)(p24p11.2)pat的患者身上发现了一种新型致病性GRIN2B变体。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-06-22 DOI: 10.1159/000539975
Carlos Córdova-Fletes, Horacio Rivera, Ma Guadalupe Domínguez-Quezada, Thania Alejandra Aguayo-Orozco, Elvira Garza-González, Luis A Núñez-García, Francisco Miguel Mercado-Silvae, Mónica Alejandra Rosales-Reynoso, Patricio Barros-Núñez
{"title":"Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat.","authors":"Carlos Córdova-Fletes, Horacio Rivera, Ma Guadalupe Domínguez-Quezada, Thania Alejandra Aguayo-Orozco, Elvira Garza-González, Luis A Núñez-García, Francisco Miguel Mercado-Silvae, Mónica Alejandra Rosales-Reynoso, Patricio Barros-Núñez","doi":"10.1159/000539975","DOIUrl":"10.1159/000539975","url":null,"abstract":"<p><strong>Introduction: </strong>Neurodevelopmental disorders (NDDs) are diverse and can be explained by either genomic aberrations or single nucleotide variants. Most likely due to methodological approaches and/or disadvantages, the concurrence of both genetic events in a single patient has hardly been reported and even more rarely the pathogenic variant has been regarded as the cause of the phenotype when a chromosomal alteration is initially identified.</p><p><strong>Case presentation: </strong>Here, we describe a NDD patient with a 6p nonpathogenic paracentric inversion paternally transmitted and a de novo pathogenic variant in the GRIN2B gene. Molecular-cytogenetic studies characterized the familial 6p inversion and revealed a paternal 9q inversion not transmitted to the patient. Subsequent whole-genome sequencing in the patient-father dyad corroborated the previous findings, discarded inversions-related cryptic genomic rearrangements as causative of the patient's phenotype, and unveiled a novel heterozygous GRIN2B variant (p.(Ser570Pro)) only in the proband. In addition, Sanger sequencing ruled out such a variant in her mother and thereby confirmed its de novo origin. Due to predicted disturbances in the local secondary structure, this variant may alter the ion channel function of the M1 transmembrane domain. Other pathogenic variants in GRIN2B have been related to the autosomal dominant neurodevelopmental disorder MRD6 (intellectual developmental disorder, autosomal dominant 6, with or without seizures), which presents with a high variability ranging from mild intellectual disability (ID) without seizures to a more severe encephalopathy. In comparison, our patient's clinical manifestations include, among others, mild ID and brain anomalies previously documented in subjects with MRD6.</p><p><strong>Conclusion: </strong>Occasionally, gross chromosomal abnormalities can be coincidental findings rather than a prime cause of a clinical phenotype (even though they appear to be the causal agent). In brief, this case underscores the importance of comprehensive genomic analysis in unraveling the wide-ranging genetic causes of NDDs and may bring new insights into the MRD6 variability.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"92-102"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141455834","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}
引用次数: 0
Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature. 一名患有轻微面部畸形、轻度智力障碍、自闭症谱系障碍样表型和身材矮小的男孩体内的新型 10q21.1-q22.1 重复。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-09-20 DOI: 10.1159/000541562
Jaime Toral-López, Luz María González-Huerta
{"title":"Novel 10q21.1-q22.1 Duplication in a Boy with Minor Facial Dysmorphism, Mild Intellectual Disability, Autism Spectrum Disorder-Like Phenotype, and Short Stature.","authors":"Jaime Toral-López, Luz María González-Huerta","doi":"10.1159/000541562","DOIUrl":"10.1159/000541562","url":null,"abstract":"<p><strong>Introduction: </strong>Duplications reported in 10q21-q22 include borderline to moderate intellectual disability, growth retardation, autism, attention deficit hyperactivity disorder, and minor craniofacial dysmorphism.</p><p><strong>Case presentation: </strong>We present a patient with a novel 14.7-Mb de novo interstitial duplication at 10q21.1-q22.1 delineated by a high-definition (HD) single nucleotide polymorphism (SNP) array. The boy had minor facial dysmorphism, mild intellectual disability, an autism spectrum disorder-like phenotype, and short stature.</p><p><strong>Conclusion: </strong>This is the first case in which a novel 10q21.1-q22.1 duplication was detected by the HD SNP array, expanding the spectrum of duplications seen in 10q21-q22. This report provides a detailed clinical examination of a patient with a 10q21.1-q22.1 duplication and suggests that brain development and cognitive function may be affected by an increased dosage sensitivity of the involved JMJD1C and EGR2 genes. This case contributes to the understanding of the genotype-phenotype relationship for genetic counseling and provides further evidence for the identification of a novel microduplication syndrome in 10q21-q22.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"148-153"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142281876","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}
引用次数: 0
Exploring the Role of Extrachromosomal Circular DNA in Human Diseases. 探索染色体外环状 DNA 在人类疾病中的作用。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-09-30 DOI: 10.1159/000541563
Yali Peng, Huihui Tao, Guoying Wang, Mengyao Wu, Tinatin Xu, Chunmei Wen, Xuejia Zheng, Yong Dai
{"title":"Exploring the Role of Extrachromosomal Circular DNA in Human Diseases.","authors":"Yali Peng, Huihui Tao, Guoying Wang, Mengyao Wu, Tinatin Xu, Chunmei Wen, Xuejia Zheng, Yong Dai","doi":"10.1159/000541563","DOIUrl":"10.1159/000541563","url":null,"abstract":"<p><strong>Background: </strong>Extrachromosomal circular DNA (eccDNA) has emerged as a central focus in molecular biology, with various types being found across species through advanced techniques, including high-throughput sequencing. This dynamic molecule exerts a significant influence on aging and immune function and plays pivotal roles in autoimmune diseases, type 2 diabetes mellitus, cancer, and genetic disorders.</p><p><strong>Summary: </strong>This comprehensive review investigates the classification, characteristics, formation processes, and multifaceted functions of eccDNA, providing an in-depth exploration of its mechanisms in diverse diseases.</p><p><strong>Key messages: </strong>The goal of this review was to establish a robust theoretical foundation for a more comprehensive understanding of eccDNA, offering valuable insights for the development of clinical diagnostics and innovative therapeutic strategies in the context of related diseases.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"181-193"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142343460","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}
引用次数: 0
Karyotypes and Chromosomal Mapping of Some Repetitive DNAs in Two Stingless Bee Species (Apidae: Meliponini), with the Description of a B Chromosome in Plebeia Genus. 两种无刺蜜蜂(Apidae: Meliponini)的核型和一些重复 DNA 的染色体图谱,并描述了 Plebeia 属的 B 染色体。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-10-28 DOI: 10.1159/000542295
Bárbara L F Andrade, Ana Luiza G Lopes, Gisele A Teixeira, Mara G Tavares
{"title":"Karyotypes and Chromosomal Mapping of Some Repetitive DNAs in Two Stingless Bee Species (Apidae: Meliponini), with the Description of a B Chromosome in Plebeia Genus.","authors":"Bárbara L F Andrade, Ana Luiza G Lopes, Gisele A Teixeira, Mara G Tavares","doi":"10.1159/000542295","DOIUrl":"10.1159/000542295","url":null,"abstract":"<p><strong>Introduction: </strong>Cytogenetic studies on stingless bees have significantly contributed to our understanding of karyotypic evolution and the composition of euchromatin and heterochromatin regions, including repetitive sequences.</p><p><strong>Methods: </strong>In this study, we performed classical cytogenetics, chromosomal banding, and mapping of some repetitive sequences in two stingless bee species, Frieseomelitta trichocerata and Plebeia poecilochroa.</p><p><strong>Results: </strong>The species exhibit the typical diploid chromosome number of each genera, 2n = 30 for Frieseomelitta and 2n = 34 for Plebeia. Additionally, some individuals of P. poecilochroa presented a small heterochromatic B chromosome, showing a numeric variation of n = 17-18 in males and 2n = 34-35 in females. In both species, heterochromatin is primarily distributed in the short arm and centromeric regions. Centromeric regions were found to be AT-rich in both species, while subterminal/terminal regions of the short arms of one and six chromosomes presented GC-rich sites in P. poecilochroa and F. trichocerata, respectively. The rDNA clusters were mapped on two chromosomes in F. trichocerata, and in only one chromosome pair in P. poecilochroa. Microsatellites (GA)n, (GAG)n, and (CAA)n were predominantly mapped in euchromatic regions, while the telomeric motif (TTAGG)n mapped to the ends of most chromosomes, including the B chromosome of P. poecilochroa. The other repetitive probes used, including the rDNA clusters, do not label the B chromosome of P. poecilochroa.</p><p><strong>Conclusions: </strong>Our cytogenetic data highlight both similarities and differences when compared to other congeneric species, expanding the chromosomal data for both genera.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"267-275"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142521343","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}
引用次数: 0
Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Inversions in German Population. 德国人口中罕见但反复出现的倒位现象的分子细胞遗传学特征。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI: 10.1159/000539447
Joana Seixas, Niklas Padutsch, Stefanie Kankel, Thomas Liehr, Alody Sy
{"title":"Molecular Cytogenetic Characterization of Rare but Repeatedly Observed Inversions in German Population.","authors":"Joana Seixas, Niklas Padutsch, Stefanie Kankel, Thomas Liehr, Alody Sy","doi":"10.1159/000539447","DOIUrl":"10.1159/000539447","url":null,"abstract":"<p><strong>Introduction: </strong>The term inversion refers to an aberration caused by two breakage and fusion events found in one or both arms of a chromosome. The presence of such aberrations can but must not be associated with infertility or unbalanced products of conception. Normally, inversions are not associated with phenotypic alterations for the carrier. Despite the fact that most such inversions are de novo and unique, recurrent breakpoints have also been reported.</p><p><strong>Methods: </strong>Here two recurrent paracentric inversions in the long arm of chromosomes 11 and 12 and a pericentric one in chromosome 10 were studied in at least 10 unrelated (infertile) patients, each. Breakpoints were narrowed down by fluorescence in situ hybridization applying locus-specific bacterial artificial chromosome-derived probes.</p><p><strong>Results: </strong>Molecular cytogenetically identical breakpoints could be characterized for all three studied inversions. Pericentric inversion inv(10)(p11.21q21.2), previously reported to be of single origin and distributed mainly in Northern Europe, could be found to be present all over Germany, too. In the studied cases with paracentric inversion inv(11)(q21q23.3), recurrent breakpoints were found in all parts of Germany, as well; however, additional 2 cases with slightly different breakpoints were characterized besides. Most interestingly, inversion inv(12)(q14.1∼14.2q24.11∼24.13) had always the same recurrent breakpoints and presented an exclusive occurrence in North-Western part of Germany.</p><p><strong>Conclusion: </strong>Overall, (at least) three different cytogenetically detectable recurrent inversions were characterized here. This highlights that such events may be more frequent in human population than yet suggested. Accordingly, such events might even spread in (middle European) human population. Specific impact on reproduction and fitness of inversion carriers characterized here seems to be negligible. Nonetheless, such recurrent rearrangements need more attention as they may provide valuable information for genetic counseling in future.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"78-84"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141155091","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}
引用次数: 0
New Karyotype Information for Ctenomys (Rodentia: Ctenomyidae) from Midwest and Northern Brazil. 来自巴西中西部和北部的栉水母(啮齿目:栉水母科)的新核型信息。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-02-23 DOI: 10.1159/000538014
Thays Duarte de Oliveira, Natasha A Bertocchi, Bruno Busnello Kubiak, Daniel Galiano, Sérgio Luiz Althoff, Thales R O de Freitas
{"title":"New Karyotype Information for Ctenomys (Rodentia: Ctenomyidae) from Midwest and Northern Brazil.","authors":"Thays Duarte de Oliveira, Natasha A Bertocchi, Bruno Busnello Kubiak, Daniel Galiano, Sérgio Luiz Althoff, Thales R O de Freitas","doi":"10.1159/000538014","DOIUrl":"10.1159/000538014","url":null,"abstract":"<p><strong>Introduction: </strong>Its wide karyotypic variation characterizes the genus Ctenomys, and in Brazil, the genus is distributed in the country's southern, Midwest, and northern regions. Recently, populations of Ctenomys have been found in the Midwest and northern Brazil, with two new lineages named C. sp. \"xingu\" and C. sp. \"central.\"</p><p><strong>Methods: </strong>This work combines classical cytogenetic and molecular analyses to provide new chromosomal information on the boliviensis group distributed in northern and Midwestern Brazil. This includes the validation of the karyotype of C. bicolor and C. nattereri and the description of the karyotype of C. sp. \"xingu\" and C. sp. \"central.\"</p><p><strong>Results: </strong>We found three different karyotypes: 2n = 40 for C. bicolor; 2n = 36 for C. nattereri, and specimens from a locality belonging to C. sp. \"central\"; 2n = 34 for the lineage C. sp. \"xingu\" and specimens from a locality belonging to C. sp. \"central.\" Furthermore, GTG banding revealed homologous chromosomes between species/lineages and allowed the identification of the rearrangements that occurred, which proved the occurrence of fissions.</p><p><strong>Conclusion: </strong>Considering our results on the variation of 2n in the boliviensis group, we found two possibilities: the first, deduced by parsimony, is that 2n = 36 appeared initially, and two fissions produced gave rise to 2n = 40, and an independent fusion gave rise to 2n = 34 from 2n = 36; moreover, the second explanation is that all karyotypes arose independently.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"33-42"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139971276","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}
引用次数: 0
Cytogenomic Characterization of Murine Osteosarcoma Cell Line SEWA. 小鼠骨肉瘤细胞系SEWA的细胞基因组学特征。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-12-11 DOI: 10.1159/000543063
Thomas Liehr, Martina Rincic
{"title":"Cytogenomic Characterization of Murine Osteosarcoma Cell Line SEWA.","authors":"Thomas Liehr, Martina Rincic","doi":"10.1159/000543063","DOIUrl":"10.1159/000543063","url":null,"abstract":"<p><strong>Introduction: </strong>The SEWA cell line, which is derived from a virus-induced murine osteosarcoma (OS) ascites, was established in the 1980s from a serially transplanted male-derived tumor that was first published in 1961. It has been applied in about 50 studies but was never genetically characterized in detail; this study fills that gap.</p><p><strong>Methods: </strong>The SEWA cell line was analyzed for its chromosomal constitution using molecular cytogenetic approaches. Array comparative genomic hybridization was performed to characterize copy number alterations.</p><p><strong>Results: </strong>SEWA has a near-diploid karyotype without Y-chromosome material. The complex karyotype includes neocentrics and simple and complex rearrangements. Amplification of MYC oncogene was detected in two homogeneously staining regions on two different derivative chromosomes.</p><p><strong>Conclusion: </strong>An in silico translation of the obtained results to the human genome indicated that SEWA is suitable as a model for advanced human OS.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"236-242"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812676","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}
引用次数: 0
The Association between Short Telomere Length and Cardiovascular Disease. 短端粒长度与心血管疾病之间的关系。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-12-11 DOI: 10.1159/000542795
Persefoni Fragkiadaki, Miruna-Maria Apetroaei, Elisavet Kouvidi, Elena Vakonaki, Elissavet Renieri, Irene Fragkiadoulaki, Marios Spanakis, Stella Baliou, Athanasios Alegakis, Aristidis Tsatsakis
{"title":"The Association between Short Telomere Length and Cardiovascular Disease.","authors":"Persefoni Fragkiadaki, Miruna-Maria Apetroaei, Elisavet Kouvidi, Elena Vakonaki, Elissavet Renieri, Irene Fragkiadoulaki, Marios Spanakis, Stella Baliou, Athanasios Alegakis, Aristidis Tsatsakis","doi":"10.1159/000542795","DOIUrl":"10.1159/000542795","url":null,"abstract":"<p><strong>Introduction: </strong>Telomeres, repetitive DNA sequences at chromosome ends, shorten with cell division, countered by telomerase. Short telomeres are linked to cardiovascular disease (CVD), alongside its risk factors like aging, hypertension, diabetes, obesity, inactivity, and smoking. Many studies have claimed the implication of telomere length (TL) in cardiac diseases. This study examined TL's impact on heart conditions using quantitative fluorescence in situ hybridization (Q-FISH) technology.</p><p><strong>Methods: </strong>Thirteen CVD patients (nine men and four women) aged 30-70 years and aged-matched healthy participants from the BIOTEL population TL database, were included in the study. Each chromosome's TL from peripheral blood cells was measured using metaphase Q-FISH. An independent sample t test was used to compare participants' mean or median TL with various medical factors and habits.</p><p><strong>Results: </strong>The mean TL of whole and short telomeres in cardiac disease patients was lower compared to aged-matched healthy controls; however, there was no statistical significance due to the limited patient sample. The mean TL of short telomeres in cardiac disease patients showed a remarkable decline with advanced age. Accordingly, the mean TL of whole and short telomeres in patients with cardiac diseases showed a similar reduced trend.</p><p><strong>Conclusion: </strong>In our study, shorter TL was observed in cardiac disease patients compared to those of healthy controls by using metaphase Q-FISH. However, more cases need to be studied to elucidate the use of TL as a potential biomarker for the diagnosis of patients with CVD.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"202-210"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812677","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}
引用次数: 0
Karyotypic Reshuffling in the Genus Rhipidomys (Rodentia: Cricetidae: Sigmodontinae) Revealed by Zoo-FISH. 通过 Zoo-FISH 发现 Rhipidomys 属(啮齿目:Cricetidae:Sigmodontinae)的核型重组。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-05-30 DOI: 10.1159/000539476
Camila N Moreira, Fernanda G Pricoli, Malcolm A Ferguson-Smith, Yatiyo Yonenaga-Yassuda, Karen Ventura
{"title":"Karyotypic Reshuffling in the Genus Rhipidomys (Rodentia: Cricetidae: Sigmodontinae) Revealed by Zoo-FISH.","authors":"Camila N Moreira, Fernanda G Pricoli, Malcolm A Ferguson-Smith, Yatiyo Yonenaga-Yassuda, Karen Ventura","doi":"10.1159/000539476","DOIUrl":"10.1159/000539476","url":null,"abstract":"<p><strong>Introduction: </strong>Rhipidomys is the second most specious and the most widespread genus of the tribe Thomasomyini. Chromosomal data have been an important tool in the taxonomy of the group that presents low variability of diploid number (2n) and highly variable fundamental numbers (FNs). Despite such diversity, the genus has been studied mainly by classical and banding cytogenetic techniques.</p><p><strong>Methods: </strong>This study performed a comparative study between R. emiliae (2n = 44, FN = 52), R. macrurus (2n = 44, FN = 49), R. nitela (2n = 50, FN = 71), and R. mastacalis (2n = 44, FN = 72) using chromosome painting probes of two Oryzomyini species.</p><p><strong>Results: </strong>Our analysis revealed pericentric inversion as the main rearrangement involved in the karyotype evolution of the group, although tandem fusions/fissions were also detected. In addition, we detected eight syntenic associations exclusive of the genus Rhipidomys, and three syntenic associations shared between species of the tribe Thomasomyini and Oryzomyini.</p><p><strong>Conclusion: </strong>Comparative cytogenetic analysis by ZOO-FISH on genus Rhipidomys supports a pattern of chromosomal rearrangement already suggested by comparative G-banding. However, the results suggest that karyotype variability in the genus could also involve the occurrence of an evolutionary new centromere.</p>","PeriodicalId":11206,"journal":{"name":"Cytogenetic and Genome Research","volume":" ","pages":"110-120"},"PeriodicalIF":1.7,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141179207","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}
引用次数: 0
Fluorescence in situ Hybridization Analysis of Oligonucleotide 5S Ribosomal DNA, 45S Ribosomal DNA, and (TTTAGGG)3 Locations in Gloriosa superba L. 5S rDNA、45S rDNA 和 (TTTAGGG)3 寡核苷酸位置的荧光原位杂交分析。
IF 1.7 4区 生物学
Cytogenetic and Genome Research Pub Date : 2024-01-01 Epub Date: 2024-10-12 DOI: 10.1159/000541706
Hongyou Zhao, Duo Wang, Haitao Li, Shuang Li, Yanfang Wang, Anshun Xu, Chunyong Yang, Ge Li, Yanqian Wang, Lixia Zhang
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