Integrative Analysis of the Ethanol Tolerance of Saccharomyces cerevisiae.

Ethanol (EtOH) alters many cellular processes in yeast. An integrated view of different EtOH-tolerant phenotypes and their long noncoding RNAs (lncRNAs) is not yet available. Here, large-scale data integration showed the core EtOH-responsive pathways, lncRNAs, and triggers of higher (HT) and lower (LT) EtOH-tolerant phenotypes. LncRNAs act in a strain-specific manner in the EtOH stress response. Network and omics analyses revealed that cells prepare for stress relief by favoring activation of life-essential systems. Therefore, longevity, peroxisomal, energy, lipid, and RNA/protein metabolisms are the core processes that drive EtOH tolerance. By integrating omics, network analysis, and several other experiments, we showed how the HT and LT phenotypes may arise: (1) the divergence occurs after cell signaling reaches the longevity and peroxisomal pathways, with CTA1 and ROS playing key roles; (2) signals reaching essential ribosomal and RNA pathways via SUI2 enhance the divergence; (3) specific lipid metabolism pathways also act on phenotype-specific profiles; (4) HTs take greater advantage of degradation and membraneless structures to cope with EtOH stress; and (5) our EtOH stress-buffering model suggests that diauxic shift drives EtOH buffering through an energy burst, mainly in HTs. Finally, critical genes, pathways, and the first models including lncRNAs to describe nuances of EtOH tolerance are reported here.

Produtos fitoterápicos manipulados em um laboratório de manipulação no Estado do Paraná / Phytotherapeutic products handled in a handling laboratory in the State of Paraná / Productos fitoterapéuticos manipulados en un laboratorio de manipulación en el Estado de Paraná

As plantas medicinais foram os primeiros recursos terapêuticos obtidos pelos povos e há registros do seu uso em todos os momentos da História, por grande parte das civilizações. No Brasil, o uso das plantas medicinais é resultado dos conhecimentos de três populações: indígena, europeia e africana. O presente trabalho tem como objetivo caracterizar a manipulação mensal de um laboratório de fitoterápicos na cidade de Francisco Beltrão, Paraná. Os dados que foram coletados para a presente pesquisa são: número de cápsulas manipuladas mensalmente para cada um dos fitoterápicos, os quais serão obtidos a partir dos relatórios de manipulação de fitoterápicos mensais no ano de 2021 e individuais de cada unidade de saúde, fornecidos pela Secretaria de Saúde. Não havendo acesso a informações de pacientes e tampouco contato com eles. As informações dos relatórios foram tabuladas em planilha a fim de se estabelecer os três principais fitoterápicos manipulados no período preestabelecido. Trata-se de um estudo de campo, exploratório, documental e retrospectivo. Observamos que a média de manipulação foi de 34.029 cápsulas por mês, os fitoterápicos mais manipulados no ano de 2021, foram: Passiflora incarnata (maracujá), Aesculus hippocastanum (castanha da índia) e Curcuma longa. Também foi possível notar que houve um aumento gradual de dispensações após a capacitação dos profissionais, ocorrida entre junho e setembro. Além disso, verificamos que há uma grande diferença na quantidade dispensada por cada farmácia municipal, possivelmente devido ao nível de conhecimento dos profissionais de saúde e se preferem ou não prescrever aos pacientes.

Medicinal plants were the first therapeutic resources obtained by people and there are records of their use at all times of history, by a large part of civilizations. In Brazil, the use of medicinal plants is a result of the knowledge of three populations: indigenous, European and African. The present work aims to characterize the monthly handling of a plant medicine laboratory in the city of Francisco Beltrão, Paraná. The data that were collected for this research are: number of capsules handled monthly for each one of the phytotherapics, which will be obtained from the reports of handling of monthly phytotherapics in the year 2021 and individual of each health unit, provided by the Secretariat of Health. There is no access to patient information and no contact with them. The information in the reports was tabulated into a spreadsheet in order to establish the three main phytotherapics handled in the pre-established period. This is an exploratory, documentary and retrospective field study. We observed that the average handling was 34,029 capsules per month, the most manipulated phytotherapics in the year 2021, were: Passiflora incarnata (passion fruit), Aesculus hippocastanum (chestnut from India) and Curcuma longa. It was also possible to note that there was a gradual increase in dispensations after the training of professionals, which took place between June and September. In addition, we note that there is a big difference in the amount dispensed by each municipal pharmacy, possibly due to the level of knowledge of health professionals and whether or not they prefer to prescribe to patients.

Las plantas médicas fueron los primeros recursos terapéuticos obtenidos por los pueblos y hay registros de su uso en todo momento de la historia, por una gran parte de las civilizaciones. En Brasil, el uso de plantas medicinales es el resultado del conocimiento de tres poblaciones: indígenas, europeos y africanos. El presente trabajo tiene como objetivo caracterizar la manipulación mensual de un laboratorio fitoterapéutico en la ciudad de Francisco Beltrão, Paraná. Los datos recogidos para esta investigación son: el número de cápsulas manejadas mensualmente para cada una de las fitoterapias, que se obtendrán de los informes mensuales de manipulación fitoterapéutica en el año 2021 y el individuo de cada unidad de salud, proporcionados por el Departamento de Salud. No hay acceso a la información del paciente ni contacto con ella. La información contenida en los informes se tabuló en una hoja de cálculo para establecer las tres principales fitoterapias manipuladas en el periodo predefinido. Se trata de un estudio de campo, exploratorio, documental y retrospectivo. Observamos que la manipulación media fue de 34.029 cápsulas al mes, las fitoterapias más manipuladas en 2021 fueron: Passiflora incarnata (fruto de la pasión), Aesculus hippocastanum (castaño indio) y Curcuma longa. También es posible señalar que se ha producido un aumento gradual de las dispensaciones después de la capacitación de profesionales, que se llevó a cabo entre junio y septiembre. Además, vemos que existe una enorme diferencia en la cantidad que proporciona cada farmacia municipal, posiblemente debido al nivel de conocimiento de los profesionales de la salud y si prefieren recetarla a los pacientes o no. PALABRAS CLAVE: Fitoterapias; Farmacias Municipales; Curcuma Longa; Passiflora Incarnata; Aesculus Hippocastanum.

Utilizing Public Health Frameworks and Partnerships to Ensure Equity in DNA-Based Population Screening.

DNA-Based population screening in the United States has the promise to improve the health of all people in all communities. We highlight recent DNA-based population screening examples at the state, local, and individual level. Key public health principles and concepts with a focus on equity appear to be lacking in current efforts. We request 'A Call to Action' that involves all partners in DNA-based population screening. Potential actions to consider include: a) identification and elimination of systemic barriers that result in health inequities in DNA-based population screening and follow-up; b) creation of a national multidisciplinary advisory committee with representation from underserved communities; c) revisiting well-described public health screening principles and frameworks to guide new screening decisions and initiatives; d) inclusion of the updated Ten Essential Public Health Services with equity at the core in efforts at the local, state and national level.

Assessing barriers to the career ladder and professional development for ethnic minority genetic counselors in the United States.

Ethnic diversity is not reflected within healthcare professions, including genetic counseling, where lack of growth and membership among minority colleagues extends to upper-level and executive roles. While diversity and inclusion-based topics have been emphasized, studies on potential barriers to career advancement in the field of genetic counseling have not received the same attention. Our study examined the current state of mentorship and sponsorship programs, the presence of diversity and inclusion initiatives, and opportunities for career advancement through the lens of a minority genetic counselor. Practicing genetic counselors in the United States identifying as part of any racial group, other than non-Hispanic White alone, were recruited through the Minority Genetics Professionals Network for survey participation. A 31-item survey was fully completed by 19 practicing genetic counselors from a variety of ethnic backgrounds. Data were analyzed using descriptive statistics and thematic analysis, allowing for individual stories and accounts to be amplified. Results showed 16 of 19 participants had never been promoted in their current employment setting. Additionally, 7 out of 19 respondents disagreed or strongly disagreed that their company had a commitment to an ethnically diverse workforce within upper-level positions. Prominent themes identified from open-ended responses included lack of social connection with supervisors and the cross-race effect, a term referencing a tendency for individuals to better recognize members of their own race or ethnicity than others. Additional themes revealed feelings of isolation, need for support from White colleagues, as well as desired emphasis on sponsorship tailored toward professional growth. These findings demonstrate a need for proactive involvement in reaching ethnic and racial minority genetic counselors through companywide policy efforts, support and advocacy from White colleagues, and modification of cultural perception frameworks. Further focus and emphasis on these distinct but critical topics may be important in promoting increased diversity in upper-level positions in the field of genetic counseling.

Differential expression of miRNAs in the presence of B chromosome in the cichlid fish Astatotilapia latifasciata.

BACKGROUND: B chromosomes (Bs) are extra elements observed in diverse eukaryotes, including animals, plants and fungi. Although Bs were first identified a century ago and have been studied in hundreds of species, their biology is still enigmatic. Recent advances in omics and big data technologies are revolutionizing the B biology field. These advances allow analyses of DNA, RNA, proteins and the construction of interactive networks for understanding the B composition and behavior in the cell. Several genes have been detected on the B chromosomes, although the interaction of B sequences and the normal genome remains poorly understood. RESULTS: We identified 727 miRNA precursors in the A. latifasciata genome, 66% which were novel predicted sequences that had not been identified before. We were able to report the A. latifasciata-specific miRNAs and common miRNAs identified in other fish species. For the samples carrying the B chromosome (B+), we identified 104 differentially expressed (DE) miRNAs that are down or upregulated compared to samples without B chromosome (B-) (p < 0.05). These miRNAs share common targets in the brain, muscle and gonads. These targets were used to construct a protein-protein-miRNA network showing the high interaction between the targets of differentially expressed miRNAs in the B+ chromosome samples. Among the DE-miRNA targets there are protein-coding genes reported for the B chromosome that are present in the protein-protein-miRNA network. Additionally, Gene Ontology (GO) terms related to nuclear matrix organization and response to stimulus are exclusive to DE miRNA targets of B+ samples. CONCLUSIONS: This study is the first to report the connection of B chromosomes and miRNAs in a vertebrate species. We observed that the B chromosome impacts the miRNAs expression in several tissues and these miRNAs target several mRNAs involved with important biological processes.

Summary report of the 2019 Diversity and Inclusion Task Force of the National Society of Genetic Counselors.

The size and reach of the genetic counseling profession have expanded on a global scale since the 1970s. Despite this growth, the profession of genetic counseling has remained demographically homogenous. Promoting a culture of inclusivity that supports visible and invisible diversity and leveraging that culture not only expands perspectives represented in the field, but also helps foster equity in genetic services. This report summarizes the formation, implementation, and outcomes of the 2019 Diversity and Inclusion Task Force (TF) of the National Society of Genetic Counselors (NSGC), including the group's responses to their allotted charges from the NSGC Board of Directors. The recommendations generated by the TF aim to aid in the (1) establishment of infrastructure for ongoing diversity, inclusion, and equity (DEI) work by collaborating with a DEI organizational expert and forming a DEI advisory group within the NSGC, (2) development of specific short-term DEI initiatives, and (3) identification of seven areas of focus areas that must be addressed in order to create meaningful and measurable DEI improvements. The efficacy of these recommendations will depend on the consistency and creativity of implementation, shared responsibility, sufficient resources allocated to DEI initiatives, and measurable outcomes.

Genetic Counseling, Personalized Medicine, and Precision Health.

Millions of individuals in the United States will have their exomes and genomes sequenced over the next 5 years as the use of genomic sequencing technologies in clinical care grows and as initiatives in personalized medicine and precision health move forward. As a result, we will see a shift away from the patient population of early adopters who pursued direct-to-consumer (DTC) testing and paid thousands of dollars to get their genomes sequenced and toward a different and more diverse set of test takers. Early data suggest that these individuals will have different motivations for pursuing genomic sequencing and will be less knowledgeable about and less confident of the benefits of genetic testing. To serve this growing population, genetic counselors must understand our future patients as well as the changing landscape of genomic testing, DTC offerings, and population sequencing initiatives.

At-home genetic testing in pediatrics.

PURPOSE OF REVIEW: This review discusses the state of at-home genetic testing, including both direct-to-consumer and consumer-directed genetic testing, for children. RECENT FINDINGS: At-home genetic testing continues to increase in popularity and laboratories are starting to offer tests geared towards newborns and children. Available at-home genetic tests for children address ancestral descent, supplement newborn screening, or provide risks for childhood and adult-onset disorders as well as pharmacogenomic data. However, there are aspects of at-home testing that are unique to children that both providers and parents need to be aware of before considering this type of testing; these include issues related to motivations for testing; privacy concerns; result interpretation; ethical, legal and social implications; and impact on family relationships, among others. SUMMARY: This review addresses the challenges associated with at-home genetic testing in children and provides guidance for pediatricians and other health care providers who field inquiries about this type of testing or who are presented with at-home genetic test results for interpretation.

DNA transposon invasion and microsatellite accumulation guide W chromosome differentiation in a Neotropical fish genome.

Sex chromosome differentiation is subject to independent evolutionary processes among different lineages. The accumulation of repetitive DNAs and consequent crossing-over restriction guide the origin of the heteromorphic sex chromosome region. Several Neotropical fish species have emerged as interesting models for understanding evolution and genome diversity, although knowledge of their genomes is scarce. Here, we investigate the content of repetitive DNAs between males and females of Apareiodon sp. based on large-scale genomic data focusing on W sex chromosome differentiation. In Apareiodon, females are the heterogametic sex (ZW) and males are the homogametic sex (ZZ). The genome size estimate for Apareiodon was 1.2 Gb (with ~ 42× and ~ 47× coverage for males and females, respectively). In Apareiodon sp., approximately 36% of the genome was composed of repetitive DNAs and transposable elements (TEs) were the most abundant class. Read coverage analysis revealed different amounts of repetitive DNAs in males and females. The female-enriched clusters were located on the W sex chromosome and were mostly composed of microsatellite expansions and DNA transposons. Landscape analysis of TE contents demonstrated two major waves of invasions of TEs in the Apareiodon genome. Estimation of TE insertion times correlated with in situ locations permitted the inference that helitron, Tc1-mariner, and CMC EnSpm DNA transposons accumulated repeated copies during W chromosome differentiation between 20 and 12 million years ago. DNA transposons and microsatellite expansions appeared to be major players in W chromosome differentiation and to guide modifications in the genome content of the heteromorphic sex chromosomes.

Perfil dos pacientes acompanhados pelo SIS-HiperDia em um estado do nordeste brasileiro / Profile of patients followed by the SIS-HiperDia in a brazilian northeast state

Introdução: Atualmente a hipertensão (HAS) e o diabetes (DM) configuram-se como um importante problema de saúde pública internacional, com elevadas morbidade e mortalidade em diversas nações. O maior ônus aos sistemas de saúde do mundo relaciona-se ao conjunto de doenças crônicas não transmissíveis, no qual se insere a hipertensão e o diabetes melittus, implicando em prejuízos para os doentes, suas famílias e para a sociedade. É, portanto, imperioso conhecer as características dos acometidos por essas enfermidades. Objetivo: Caracterizar indivíduos com hipertensão e diabetes mellitus cadastradas no SIS-HiperDia no estado do Maranhão. Material e Métodos: Estudo observacional, descritivo, quantitativo, utilizando dados do SIS-HiperDia de 2002 a 2012. Resultados: As mulheres foram o grupo de maior representatividade dentre os cadastrados, bem como aqueles pertencentes à faixa etária de 60 a 79 anos. Na análise das complicações e fatores de risco, o AVC e o sedentarismo foram, respectivamente, os mais referidos. Conclusão: observou-se maior prevalência de hipertensão e diabetes mellitus entre as mulheres, em idades avançadas. Faz-se necessário implementar ações de saúde que visem assistir essa população alvo, bem como estratégias que auxiliem na redução das complicações e fatores de risco associados a essas doenças crônicas não transmissíveis.

Introduction: Hypertension (HTN) and diabetes (DM) are now an important public health problem. Both pose a high morbidity and mortality in several worldwide nations. The greatest burden on the world's health systems is related to chronic noncommunicable diseases, in which both hypertension and diabetes mellitus are inserted. Both disease cause harm to patients, to their families, and to society. Therefore, it is imperative to know the characteristics of those affected by these diseases. Objective: To characterize individuals with hypertension and diabetes mellitus enrolled in SIS-Hiperdia in the State of Maranhão. Patients and Methods: We carried out an observational, descriptive, and quantitative study using SIS-HiperDia data from 2002 to 2012. Results: Women were the most representative group among those enrolled, as well as those with ages ranging from 60 to 79 years. In the analysis of complications and risk factors, the most frequently mentioned events were stroke and sedentary lifestyle. Conclusion: We observed a higher prevalence of hypertension and diabetes mellitus among women at an advanced age. It is necessary to implement health actions aimed at assisting this target population, as well as strategies that help reducing the complications and risk factors associated with these noncommunicable diseases.

How dynamic could be the 45S rDNA cistron? An intriguing variability in a grasshopper species revealed by integration of chromosomal and genomic data.

To better understand the structure and variability of the 45S rDNA cistron and its evolutionary dynamics in grasshoppers, we performed a detailed analysis combining classical and molecular cytogenetic data with whole-genome sequencing in Abracris flavolienata, which shows extraordinary variability in the chromosomal distribution for this element. We found astonishing variability in the number and size of rDNA clusters at intra- and inter-population levels. Interestingly, FISH using distinct parts of 45S rDNA cistron (18S rDNA, 28S rDNA, and ITS1) as probes revealed a distinct number of clusters, suggesting independent mobility and amplification of the 45S rDNA components. This hypothesis is consistent with the higher genomic coverage of almost the entire cistron of 45S rDNA observed in A. flavolineata compared to other grasshoppers, besides coverage variability along the 45S rDNA cistron in the species. In addition, these differences in coverage for distinct components of the 45S rDNA cistron indicate emergence of pseudogenes evidenced by existence of truncated sequences, demonstrating the rDNA dynamics in the species. Although the chromosomal distribution of 18S rDNA was highly variable, the chromosomes 1, 3, 6, and 9 harbored rDNA clusters in all individuals with the occurrence of NOR activity in pair 9, suggesting ancestry or selective pressures to prevent pseudogenization of rDNA sequences in this chromosome pair. Additionally, small NORs and cryptic rDNA loci were observed. Finally, there was no evidence of enrichment and association of transposable elements, at least, inside or nearby rDNA cistron. These findings broaden our knowledge of rDNA dynamics, revealing an independent movement and amplification of segments of 45S rDNA cistron, which in A. flavolineata could be attributed to ectopic recombination.

De novo genome assembly of the cichlid fish Astatotilapia latifasciata reveals a higher level of genomic polymorphism and genes related to B chromosomes.

Supernumerary B chromosomes (Bs) are accessory elements to the regular chromosome set (As) and have been observed in a huge diversity of eukaryotic species. Although extensively investigated, the biological significance of Bs remains enigmatic. Here, we present de novo genome assemblies for the cichlid fish Astatotilapia latifasciata, a well-known model to study Bs. High coverage data with Illumina sequencing was obtained for males and females with 0B (B-), 1B, and 2B (B+) chromosomes to provide information regarding the diversity among these genomes. The draft assemblies comprised 771 Mb for the B- genome and 781 Mb for the B+ genome. Comparative analysis of the B+ and B- assemblies reveals syntenic discontinuity, duplicated blocks and several insertions, deletions, and inversions indicative of rearrangements in the B+ genome. Hundreds of transposable elements and 1546 protein coding sequences were annotated in the duplicated B+ regions. Our work contributes a list of thousands of genes harbored on the B chromosome, with functions in several biological processes, including the cell cycle.

Variable vision in variable environments: the visual system of an invasive cichlid (Cichla monoculus) in Lake Gatun, Panama.

An adaptive visual system is essential for organisms inhabiting new or changing light environments. The Panama Canal exhibits such variable environments owing to its anthropogenic origin and current human activities. Within the Panama Canal, Lake Gatun harbors several exotic fish species including the invasive peacock bass (Cichla monoculus), a predatory Amazonian cichlid. In this research, through spectral measurements and molecular and physiological experiments, we studied the visual system of C. monoculus and its adaptive capabilities. Our results suggest that (1) Lake Gatun is a highly variable environment, where light transmission changes throughout the canal waterway, and that (2) C. monoculus has several visual adaptations suited for this red-shifted light environment. Cichla monoculus filters short wavelengths (∼400 nm) from the environment through its ocular media and tunes its visual sensitivities to the available light through opsin gene expression. More importantly, based on shifts in spectral sensitivities of photoreceptors alone, and on transcriptome analysis, C. monoculus exhibits extreme intraspecific variation in the use of vitamin A1/A2 chromophore in their photoreceptors. Fish living in turbid water had higher proportions of vitamin A2, shifting sensitivities to longer wavelengths, than fish living in clear water. Furthermore, we also found variation in retinal transcriptomes, where fish from turbid and clear waters exhibited differentially expressed genes that vary greatly in their function. We suggest that this phenotypic plasticity has been key in the invasion success of C. monoculus.

Predispositional genome sequencing in healthy adults: design, participant characteristics, and early outcomes of the PeopleSeq Consortium.

BACKGROUND: Increasing numbers of healthy individuals are undergoing predispositional personal genome sequencing. Here we describe the design and early outcomes of the PeopleSeq Consortium, a multi-cohort collaboration of predispositional genome sequencing projects, which is examining the medical, behavioral, and economic outcomes of returning genomic sequencing information to healthy individuals. METHODS: Apparently healthy adults who participated in four of the sequencing projects in the Consortium were included. Web-based surveys were administered before and after genomic results disclosure, or in some cases only after results disclosure. Surveys inquired about sociodemographic characteristics, motivations and concerns, behavioral and medical responses to sequencing results, and perceived utility. RESULTS: Among 1395 eligible individuals, 658 enrolled in the Consortium when contacted and 543 have completed a survey after receiving their genomic results thus far (mean age 53.0 years, 61.4% male, 91.7% white, 95.5% college graduates). Most participants (98.1%) were motivated to undergo sequencing because of curiosity about their genetic make-up. The most commonly reported concerns prior to pursuing sequencing included how well the results would predict future risk (59.2%) and the complexity of genetic variant interpretation (56.8%), while 47.8% of participants were concerned about the privacy of their genetic information. Half of participants reported discussing their genomic results with a healthcare provider during a median of 8.0 months after receiving the results; 13.5% reported making an additional appointment with a healthcare provider specifically because of their results. Few participants (< 10%) reported making changes to their diet, exercise habits, or insurance coverage because of their results. Many participants (39.5%) reported learning something new to improve their health that they did not know before. Reporting regret or harm from the decision to undergo sequencing was rare (< 3.0%). CONCLUSIONS: Healthy individuals who underwent predispositional sequencing expressed some concern around privacy prior to pursuing sequencing, but were enthusiastic about their experience and not distressed by their results. While reporting value in their health-related results, few participants reported making medical or lifestyle changes.

The dawn of consumer-directed testing.

As the public's interest in genetics and genomics has increased, there has been corresponding and unprecedented growth in direct-to-consumer genetic testing (DTC-GT). Although regulatory concerns have limited true DTC-GT available without a physician order, the paradigm has shifted to a model of consumer-directed genetic testing (CD-GT) in which patients are researching testing options and requesting specific genetic testing from their health-care providers. However, many nongenetics health-care providers do not have the background, education, interest, or time to order and/or interpret typical clinical genetic testing, let alone DTC-GT. The lines between CD-GT, DTC-GT, and traditional clinical genetic testing are also blurring with the same types of tests available in different settings (e.g., carrier screening) and tests merging medical and nonmedical results, increasing the complexity for consumer decision-making and clinician management. The genetics community has the training to work with CD-GT, but there has been a hesitancy to commit to working with these results and questions about what to do when consumers have more complicated asks, like interpretation of raw data. Additionally, at the rate with which CD-GT is growing, there are questions about having sufficient genetics professionals to meet the potential genetic counseling demand. While there are many complex questions and challenges, this market represents a chance for the genetics community to address and unmet need. We will review the history of the CD-GT/DTC-GT market and outline the issues and opportunities our profession is facing.

Uncovering the evolutionary history of neo-XY sex chromosomes in the grasshopper Ronderosia bergii (Orthoptera, Melanoplinae) through satellite DNA analysis.

BACKGROUND: Neo-sex chromosome systems arose independently multiple times in evolution, presenting the remarkable characteristic of repetitive DNAs accumulation. Among grasshoppers, occurrence of neo-XY was repeatedly noticed in Melanoplinae. Here we analyzed the most abundant tandem repeats of R. bergii (2n = 22, neo-XY♂) using deep Illumina sequencing and graph-based clustering in order to address the neo-sex chromosomes evolution. RESULTS: The analyses revealed ten families of satDNAs comprising about ~1% of the male genome, which occupied mainly C-positive regions of autosomes. Regarding the sex chromosomes, satDNAs were recorded within centromeric or interstitial regions of the neo-X chromosome and four satDNAs occurred in the neo-Y, two of them being exclusive (Rber248 and Rber299). Using a combination of probes we uncovered five well-defined cytological variants for neo-Y, originated by multiple paracentric inversions and satDNA amplification, besides fragmented neo-Y. These neo-Y variants were distinct in frequency between embryos and adult males. CONCLUSIONS: The genomic data together with cytogenetic mapping enabled us to better understand the neo-sex chromosome dynamics in grasshoppers, reinforcing differentiation of neo-X and neo-Y and revealing the occurrence of multiple additional rearrangements involved in the neo-Y evolution of R. bergii. We discussed the possible causes that led to differences in frequency for the neo-Y variants between embryos and adults. Finally we hypothesize about the role of DNA satellites in R. bergii as well as putative historical events involved in the evolution of the R. bergii neo-XY.

The hnRNP Q-like gene is retroinserted into the B chromosomes of the cichlid fish Astatotilapia latifasciata.

B chromosomes are dispensable elements observed in many eukaryotic species, including the African cichlid Astatotilapia latifasciata, which might have one or two B chromosomes. Although there have been many studies focused on the biology of these chromosomes, questions about the evolution, maintenance, and potential effects of these chromosomes remain. Here, we identified a variant form of the hnRNP Q-like gene inserted into the B chromosome of A. latifasciata that is characterized by a high copy number and intron-less structure. The absence of introns and presence of transposable elements with a reverse transcriptase domain flanking hnRNP Q-like sequences suggest that this gene was retroinserted into the B chromosome. RNA-Seq analysis did not show that the B variant retroinserted copies are transcriptionally active. However, RT-qPCR results showed variations in the canonical hnRNP Q-like copy expression levels among exons, tissues, sex, and B presence/absence. Although the patterns of transcription are not well understood, the exons of the B retrocopies were overexpressed, and a bias for female B+ expression was also observed. These results suggest that retroinsertion is an additional and important mechanism contributing to B chromosome formation. Furthermore, these findings indicate a bias towards female differential expression of B chromosome sequences, suggesting that B chromosomes and sex determination are somehow associated in cichlids.