Article
Biochemistry & Molecular Biology
Daniel Ramirez, Maria Esther Rodriguez, Ismael Cross, Alberto Arias-Perez, Manuel Alejandro Merlo, Marco Anaya, Silvia Portela-Bens, Paulino Martinez, Francisca Robles, Carmelo Ruiz-Rejon, Laureana Rebordinos
Summary: The chromosome evolution of Solea senegalensis, a commercially-important flatfish species, was studied using a cytogenomics approach and synteny analysis with two reference flatfish species. It was found that repetitive sequences played a role in the evolution of bi-armed and acrocentric chromosomes, with differences in distribution and abundance of repetitive elements suggesting their involvement in remodeling processes during evolution.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Ecology
Magnolia W. Morelli, Heath Blackmon, Carl E. Hjelmen
Summary: Karyotypes and chromosome data have been widely used in biology, but are often scattered and difficult to access. Researchers have built two datasets for true flies, providing a public database resource for exploring karyotypes.
FRONTIERS IN ECOLOGY AND EVOLUTION
(2022)
Article
Biochemistry & Molecular Biology
Thomas C. Mathers, Roland H. M. Wouters, Sam T. Mugford, David Swarbreck, Cock van Oosterhout, Saskia A. Hogenhout
Summary: Chromosome rearrangements in aphids have led to a significant reorganization over the past 30 million years, resulting in the inability to determine chromosome homology between Aphidini and Macrosiphini tribes. Despite rapid sequence evolution, low gene expression, and high transposable element load, gene content of the aphid sex (X) chromosome remained unchanged. Blood-feeding hemipterans, despite being more diverged, have conserved synteny, suggesting that rapid evolution of genome structure may be a unique characteristic of aphids.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Biochemistry & Molecular Biology
Zehui Yu, Wenjie Zhang, Huancheng Fu, Xiaoxia Zou, Mingde Zhao, Sicheng Liang, Congwei Gu, Qian Yang, Manli He, Qihai Xiao, Wudian Xiao, Lvqin He, Muhan Lu
Summary: The study re-annotated 60 Poxviridae genomes and visualized synteny and similarity of whole genomic amino acid sequences. The Chordopoxvirinae and Entomopoxvirinae subfamilies can be subdivided into five and two categories respectively based on the analysis pattern. By selecting four qualified genes, phylogenic identification of newly discovered Poxviridae isolates can be made more convenient and accurate.
COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL
(2021)
Article
Biochemistry & Molecular Biology
Maria Esther Rodriguez, Ismael Cross, Alberto Arias-Perez, Silvia Portela-Bens, Manuel Alejandro Merlo, Thomas Liehr, Laureana Rebordinos
Summary: Cytogenomics was used to reconstruct the evolution of chromosomes 2 and 4 of Solea senegalensis. The study revealed that these chromosomes have evolved through Robertsonian fusions, pericentric inversions, and other chromosomal rearrangements mediated by Transposable Elements (TEs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Editorial Material
Microbiology
Alexander Lorenz, Nicolas Papon
Summary: Candida auris, a yeast pathogen of humans, has become a global problem in intensive care settings, and recent research has filled a knowledge gap regarding its chromosome organization, revealing the mechanism behind the rapid genomic evolution of this emerging yeast pathogen.
Article
Biochemistry & Molecular Biology
Matthew A. Conte, Frances E. Clark, Reade B. Roberts, Luohao Xu, Wenjing Tao, Qi Zhou, Deshou Wang, Thomas D. Kocher
Summary: This study investigates the evolution of a giant sex chromosome in cichlid fish, finding that it consists of three distinct regions and contains unprecedented amounts of endogenous retroviral elements, immunoglobulin genes, and long non-coding RNAs. Comparative analysis across 69 teleost genomes supports the hypothesis that the giant sex chromosome originated from the fusion of a B chromosome.
MOLECULAR BIOLOGY AND EVOLUTION
(2021)
Article
Cell Biology
Peta Hill, Foyez Shams, Christopher P. Burridge, Erik Wapstra, Tariq Ezaz
Summary: This study explores the links between mechanisms of transitions in sex determination and sex chromosome evolution by studying the rare species Carinascincus ocellatus and its relative Liopholis whitii. Unique and conserved regions of the Y chromosome were identified among different populations of C. ocellatus, with no evidence of sex chromosome homology between C. ocellatus and L. whitii, indicating independent evolutionary origins. The study also discusses sex chromosome homology within the subfamily Lygosominae and proposes connections between sex chromosome evolution, sex determination transitions, and karyotype evolution.
Article
Agriculture, Dairy & Animal Science
Marcello Mezzasalma, Elvira Brunelli, Gaetano Odierna, Fabio Maria Guarino
Summary: The study provides the first karyotype description of eight Uroplatus species, revealing chromosome diversity in terms of chromosome number, heterochromatin composition, and NORs localization. Chromosome reduction is proposed to have occurred through translocations of microchromosomes on larger chromosomes, with independent sex chromosome diversification in different genera.
Article
Entomology
Natalia Golub, Viktor B. Golub, Boris A. Anokhin, Valentina G. Kuznetsova
Summary: Tingidae, or lace bugs, is a family of herbivorous true bugs with approximately 2600 identified species. This study examined the karyotypes of 16 lace bug species and analyzed the information available on lace bug karyotypes. The study found that lace bugs have conservative karyotypes, different sex chromosome systems, and different patterns of 18S rDNA chromosomal localization. The search for chromosomal landmarks is important for further understanding lace bug cytogenetics.
Article
Multidisciplinary Sciences
Wenwen Wang, Yujia Yang, Suxu Tan, Tao Zhou, Yang Liu, Changxu Tian, Lisui Bao, De Xing, Baofeng Su, Jinhai Wang, Yu Zhang, Shikai Liu, Huitong Shi, Dongya Gao, Rex Dunham, Zhanjiang Liu
Summary: The X and Y chromosomes of channel catfish have the same gene contents. The X-borne hydin-1 gene is silenced, while the Y-borne hydin-1 gene is expressed, resulting in monoallelic expression of hydin-1 responsible for sex determination, similar to genomic imprinting. Treatment with a methylation inhibitor, 5-aza-dC, erases the epigenetic marks and causes sex reversal.
Article
Multidisciplinary Sciences
Israel Guerrero-Cozar, Jessica Gomez-Garrido, Concha Berbel, Juan F. Martinez-Blanch, Tyler Alioto, M. Gonzalo Claros, Pierre-Alexandre Gagnaire, Manuel Manchado
Summary: The integration of physical and high-density genetic maps in the assembly of the Senegalese sole genome at a chromosome-level scaffold revealed differences in genomic recombination rates between sexes and identified important sex-associated genetic loci. Analysis of sex markers showed incomplete penetrance with males as the heterogametic sex. Comparison with other Pleuronectiformes genomes also revealed chromosomal rearrangements, including a lineage-specific Robertsonian fusion in S. senegalensis.
SCIENTIFIC REPORTS
(2021)
Article
Genetics & Heredity
Natalia V. Golub, Anna Maryanska-Nadachowska, Boris A. Anokhin, Valentina G. Kuznetsova
Summary: The study investigated the male karyotypes and meiosis in 10 species of Lygaeoidea. The results showed a range of chromosome numbers and the presence of an XY system and m-chromosomes. The study also found that the Lygaeoidea lack the canonical insect telomere motif (TTAGG)(n) and speculated on the presence of other telomere repeat motifs.
Article
Evolutionary Biology
Naoki Osada, Kazunari Matsudaira, Yuzuru Hamada, Suchinda Malaivijitnond
Summary: Sex-specific demography plays a crucial role in hybridization and admixture between genetically diverged species within the Macaca genus. The level of admixture on X chromosomes is more pronounced than on autosomes, indicating strong male-biased introgression. Genetic differentiation on X-chromosomal loci supports the nuclear swamping hypothesis, showing incongruencies between mitochondrial and nuclear genealogies due to continuous male-biased introgression.
GENOME BIOLOGY AND EVOLUTION
(2021)
Article
Entomology
Miriam Silva Rafael, Leticia Cegatti Bridi, Igor Sharakhov, Osvaldo Marinotti, Maria Sharakhova, Vladimir Timoshevskiy, Giselle Moura Guimaraes-Marques, Valeria Silva Santos, Carlos Gustavo Nunes da Silva, Spartaco Astolfi-Filho, Wanderli Pedro Tadei
Summary: The study revealed substantial genome rearrangements in Anopheles darlingi mosquitoes, with physical mapping data aiding in improving genome assembly accuracy and understanding chromosomal evolution. Additionally, the relatively small genome size of An. darlingi and the use of techniques like fluorescence in situ hybridization contribute to the study of mosquito chromosomes.
Article
Genetics & Heredity
Abdulsamad Wafa, Belal Ali, Faten Moassass, Maged Kheder, Abdulmunim Aljapawe, Bassel Al-Halabi, Kristin Mrasek, Thomas Liehr, Walid Al-Achkar
Summary: This study investigated the CEBPA gene mutations in a Syrian family with AML. The results showed that all affected family members had a good response to chemotherapy and achieved complete remission. This research is important for understanding the relationship between CEBPA gene mutations and AML.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Daniel Ramirez, Maria Esther Rodriguez, Ismael Cross, Alberto Arias-Perez, Manuel Alejandro Merlo, Marco Anaya, Silvia Portela-Bens, Paulino Martinez, Francisca Robles, Carmelo Ruiz-Rejon, Laureana Rebordinos
Summary: The chromosome evolution of Solea senegalensis, a commercially-important flatfish species, was studied using a cytogenomics approach and synteny analysis with two reference flatfish species. It was found that repetitive sequences played a role in the evolution of bi-armed and acrocentric chromosomes, with differences in distribution and abundance of repetitive elements suggesting their involvement in remodeling processes during evolution.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Thomas Liehr
Summary: Chromosomal heteromorphisms (CHs) are part of genetic variation in humans. Recent research has raised questions about the potential role of CHs in cancer susceptibility. However, the current routine cytogenetic analysis does not give CHs sufficient consideration, which highlights the need for more attention in future research, particularly in the study of solid tumors.
Article
Biochemistry & Molecular Biology
Roberto de la Herran, Miguel Hermida, Juan Andres Rubiolo, Jessica Gomez-Garrido, Fernando Cruz, Francisca Robles, Rafael Navajas-Perez, Andres Blanco, Paula Rodriguez Villamayor, Dorinda Torres, Pablo Sanchez-Quinteiro, Daniel Ramirez, Maria Esther Rodriguez, Alberto Arias-Perez, Ismael Cross, Neil Duncan, Teresa Martinez-Pena, Ana Riaza, Adrian Millan, M. Cristina De Rosa, Davide Pirolli, Marta Gut, Carmen Bouza, Diego Robledo, Laureana Rebordinos, Tyler Alioto, Carmelo Ruiz-Rejon, Paulino Martinez
Summary: This study reports a novel molecular sexing tool, which identified 41 single nucleotide polymorphism variants in the follicle stimulating hormone receptor (fshr) gene through whole genome resequencing of six males and six females, and validated the sex association. The study also found differential expression of the fshr gene between male and female gonads at an early stage of gonadal differentiation, suggesting a mechanism hampering the action of the follicle stimulating hormone driving the undifferentiated gonad toward testis.
MOLECULAR ECOLOGY RESOURCES
(2023)
Article
Agriculture, Dairy & Animal Science
Marco Mendizabal-Castillero, Manuel Alejandro Merlo, Ismael Cross, Maria Esther Rodriguez, Laureana Rebordinos
Summary: In this study, hox gene clusters in the Senegalese sole were characterized to better understand the developmental and metamorphosis process in this species. Cytogenetic analysis revealed the localization of hox genes on specific chromosomes. Comparative and phylogenetic analysis showed conserved organization within each hox cluster, but different clustering patterns between clusters. Analysis of structural and repetitive sequences identified polymorphisms mediated by repetitive elements in the hoxba gene cluster, suggesting a possible loss of the hoxb7a gene in the Pleuronectiformes lineage. This work provides insights into the organization and regulation of hox clusters, and serves as a foundation for further studies on expression patterns.
Review
Medicine, General & Internal
Thomas Liehr, Tigran Harutyunyan, Heather Williams, Anja Weise
Summary: In the short 10 years since its introduction, non-invasive prenatal testing (NIPT) has become a widely adopted standard screening test in many countries, including Germany. However, a review of the international literature reveals that NIPT also comes with certain issues and challenges. The German Gene Diagnostics Act (GenDG) addresses some of these issues, but also introduces new problems. It is crucial to provide appropriate training for physicians offering NIPT counseling and to ensure the provision of comprehensive and balanced information for pregnant women or couples.
Article
Biochemistry & Molecular Biology
Gustavo A. Toma, Natalia dos Santos, Rodrigo dos Santos, Petr Rab, Rafael Kretschmer, Tariq Ezaz, Luiz A. C. Bertollo, Thomas Liehr, Fabio Porto-Foresti, Terumi Hatanaka, Alongklod Tanomtong, Ricardo Utsunomia, Marcelo B. Cioffi
Summary: The study investigated the karyotypes of different color phenotypes in Scleropages formosus using molecular cytogenetic techniques. The results revealed population genetic structure and microstructure differences in the karyotypes of the color phenotypes, but did not conclusively support the hypothesis of discrete lineages or evolutionary units among them.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Dagmar Heydeck, Christoph Ufer, Kumar R. Kakularam, Michael Rothe, Thomas Liehr, Philippe Poulain, Hartmut Kuhn
Summary: The researchers created transgenic mice expressing human ALOX15 under the control of the aP2 promoter, which showed high expression in adipocytes, bone marrow cells, and peritoneal macrophages. The catalytic activity of the transgenic enzyme was confirmed through activity assays and plasma metabolite analysis. The aP2-ALOX15 mice exhibited gender-specific differences in body-weight kinetics compared to the wildtype controls.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Entomology
Jhon A. D. Vidal, Francisco de M. C. Sassi, Renata L. R. de Moraes, Roberto F. Artoni, Thomas Liehr, Marcelo B. Cioffi, Mara C. de Almeida
Summary: In this study, the similarity of X and Y chromosomes in four Omophoita species was examined, and genomic differentiation was compared to better understand the evolutionary process of the giant sex chromosomes. The results showed significant genomic similarity between the sexes and a sex-specific region on the Y chromosome, as well as genomic divergence between species. However, whole chromosome painting experiments revealed high intra- and interspecific similarity of the sex chromosomes in O. octoguttata. Our data support a common origin and canonical evolution of the sex chromosomes in this group, as they have high genomic similarity between them.
Review
Biochemistry & Molecular Biology
Galina Hovhannisyan, Tigran Harutyunyan, Rouben Aroutiounian, Thomas Liehr
Summary: Cell-free DNA (cfDNA) has become a commonly used diagnostic marker in various pathologies, including viral infections like COVID-19, due to its higher sensitivity compared to standard biochemical parameters. This review focuses on the identification, sources, molecular features, and mechanisms of release and clearance of cfDNA. It discusses the general suitability of cfDNA for diagnostic purposes, potential limitations, and future directions, with a special emphasis on coronavirus infection.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Francisco de Menezes Cavalcante Sassi, Alexandr Sember, Geize Aparecida Deon, Thomas Liehr, Niklas Padutsch, Osvaldo Takeshi Oyakawa, Marcelo Ricardo Vicari, Luiz Antonio Carlos Bertollo, Orlando Moreira-Filho, Marcelo de Bello Cioffi
Summary: The study investigates the chromosomal rearrangements and associated synteny blocks in the origin of a multiple X1X2Y sex chromosome system in the Neotropical catfish genus Harttia. The results suggest that the X1X2Y sex chromosome systems in H. punctata, H. duriventris and H. villasboas represent the same linkage groups which also form the putative XY sex chromosomes of H. rondoni. The study also indicates that the X1X2Y sex chromosome system may have formed through an X chromosome fission rather than a previously proposed Y-autosome fusion.
SCIENTIFIC REPORTS
(2023)
Article
Agriculture, Dairy & Animal Science
Claudio A. Jimenez-Ruiz, Roberto de la Herran, Francisca Robles, Rafael Navajas-Perez, Ismael Cross, Laureana Rebordinos, Carmelo Ruiz-Rejon
Summary: MicroRNAs play crucial roles in regulating gene expression, and the miR-430 family is particularly important in early fish development. This study found that the miR-430 family emerged early in fish evolution, and all studied species have multiple copies of miR-430. In some early-diverged fish, three different versions of miR-430 were identified, but some groups seem to have lost some of these versions over time. These findings suggest the need for further research on the functions of different miR-430 versions and their potential impact on aquaculture.
Article
Biology
Mariannah Pravatti Barcellos de Oliveira, Rafael Kretschmer, Geize Aparecida Deon, Gustavo Akira Toma, Tariq Ezaz, Caio Augusto Gomes Goes, Fabio Porto-Foresti, Thomas Liehr, Ricardo Utsunomia, Marcelo de Bello Cioffi
Summary: In this study, the dynamics of satellite DNAs (SatDNAs) accumulation and elimination during W chromosome differentiation in Triportheus fish were investigated. The majority of repetitive sequences were eliminated as speciation occurred in five additional Triportheus species. While the W chromosomes continued to degenerate, the Z chromosomes in some species began to accumulate TauSatDNAs. Species-specific SatDNAs were likely amplified in the heterochromatic regions of both Z and W chromosomes in each species. Thus, the W chromosomes of various Triportheus species underwent significant evolutionary changes within a short period of time (15-25 Myr) after divergence.
Article
Biochemistry & Molecular Biology
Renata Luiza Rosa de Moraes, Francisco de Menezes Cavalcante Sassi, Jhon Alex Dziechciarz Vidal, Caio Augusto Gomes Goes, Rodrigo Zeni dos Santos, Jose Henrique Forte Stornioli, Fabio Porto-Foresti, Thomas Liehr, Ricardo Utsunomia, Marcelo de Bello Cioffi
Summary: Chromosomal rearrangements play a significant role in the evolution of fish genomes, and satellite DNA sequences have potential relevance in both sex and karyotype evolution. This study investigated the association of satDNAs with chromosome-shuffling events and their involvement in the evolution of sex chromosomes in Pyrrhulina fish. In addition, a large collection of satDNAs for both species was characterized for the first time, and their potential involvement in karyotype evolution was demonstrated.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Geize Aparecida Deon, Larissa Glugoski, Terumi Hatanaka, Francisco de Menezes Cavalcante Sassi, Viviane Nogaroto, Luiz Antonio Carlos Bertollo, Thomas Liehr, Ahmed Al-Rikabi, Orlando Moreira Filho, Marcelo de Bello Cioffi, Marcelo Ricardo Vicari
Summary: This study investigates the chromosomal rearrangements in the Neotropical armored catfish genus Harttia using powerful tools such as comparative whole chromosome painting. The results reveal the importance of translocation events in the karyotype evolution of Harttia species, as well as the independent origin of two types of multiple sex chromosomes.
GENETICS AND MOLECULAR BIOLOGY
(2022)
