Majority Of Chromosomes Research Articles

Effects of genomic homozygosity on total fitness in an invertebrate: lethal equivalent estimates for Drosophila melanogaster

Estimates of susceptibility to inbreeding depression for total fitness are needed for predicting the cost of inbreeding and for use in population viability analyses, but no such valid estimates are available for any wild invertebrate population. I estimated the number of lethals equivalents for total fitness in recently wild-caught populations of Drosophila melanogaster using published data on the total fitness of homozygosity versus heterozygosity for each of the major chromosomes (the X, second, and third) under competitive conditions. As there are no data for the fitness effects of homozygosity for the small fourth chromosome which represents 1.0% of the euchromatic genome, this was accounted for by attributing the homozygosity for the three large chromosome to an inbreeding coefficient of 0.99 when computing lethal equivalents for total fitness. Total genomic homozygosity is predicted to be essentially lethal in D. melanogaster. The corresponding haploid lethal equivalents estimate for total fitness was 5.04. The lethal equivalent value lies within the range for vertebrates but tends to be higher than for most outbreeding plants which are often purged as they exhibit up to 20% selfing (by definition). As D. melanogaster has its genome sequenced and annotated and has lethal equivalent estimates for total fitness for individual chromosomes as well as its total genome, it provides an excellent opportunity for evaluating genomic estimates of mutation load.

Mating success at elevated temperature is associated to thermal adaptation in a set of recombinant inbred lines of Drosophila melanogaster

In insects, mating ability at elevated temperature can be relevant for adaptation to heat-stressed environments and global warming. Here, we examined copulation latency (T1), copulation duration (T2), and mating frequency (T3, an index of mating success) in two related sets of recombinant inbred lines (RIL) in Drosophila melanogaster at both elevated (33 °C) and benign (25 °C) temperatures. One of these RIL sets (RIL-SH2) was shown to be consistently more resistant in both heat knockdown and heat-shock survival assays than its related set (RIL-D48) in previous studies. Negative correlations across RILs were found between T1 and T3 in this study. Flies from the heat-resistant set of RIL (RIL-SH2) were better able to mate at elevated temperature than flies from the heat-susceptible set (RIL-D48). Quantitative trait locus (QTL) mapping identified temperature-dependent QTLs for all traits (T1, T2 and T3) on all the three major chromosomes. Mating success at elevated temperature was found to be influenced by multiple QTLs. At elevated temperature, several QTLs for mating traits co-localized with QTLs that were previously associated with thermotolerance. The genetic basis for T1, T2 and T3 at the elevated temperature was found to be largely different from the genetic basis controlling the variation for mating success at benign temperature, as there was only a very low (or even null) number of QTLs overlapping across temperatures.

Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis

BackgroundAneuploidies are the most common chromosomal abnormality and the main genetic cause of adverse pregnancy outcomes. Since numerous studies have focused on common trisomies, relatively little is known about the association between phenotypic findings and rare autosomal aneuploidies (RAAs). We conducted a retrospective study of 48,904 cases for chromosomal microarray analysis in a large tertiary referral center and reported the overall frequencies, clinical manifestations, and outcomes of prenatal RAAs.ResultsA total of 90 RAAs were detected, of which 83 cases were mosaic trisomies and 7 were non-mosaic trisomies. Chromosomes 16, 22, and 9 were identified as the major chromosomes involving RAAs. The four predominant indications for prenatal diagnosis in our RAA cases were RAA-positive in noninvasive prenatal screening, advanced maternal age, ultrasound abnormalities, and high-risk for serum prenatal screening. Cardiovascular defects were the most frequently observed structural abnormalities, followed by musculoskeletal anomalies. Increased nuchal translucency and persistent left superior vena cava, the major soft marker abnormalities involved, were also observed in our RAA cases. Clinical outcomes were available for all RAAs, with 63 induced abortions and 27 live births recorded.ConclusionsVariable phenotypes and outcomes were observed, which were highly heterogeneous in cases of prenatal RAAs. Thus, a cautious and comprehensive strategy should be implemented during prenatal counseling for RAAs.

The Pivotal Role of Major Chromosomes of Sub-Genomes A and D in Fiber Quality Traits of Cotton.

Lack of precise information about the candidate genes involved in a complex quantitative trait is a major obstacle in the cotton fiber quality improvement, and thus, overall genetic gain in conventional phenotypic selection is low. Recent molecular interventions and advancements in genome sequencing have led to the development of high-throughput molecular markers, quantitative trait locus (QTL) fine mapping, and single nucleotide polymorphisms (SNPs). These advanced tools have resolved the existing bottlenecks in trait-specific breeding. This review demonstrates the significance of chromosomes 3, 7, 9, 11, and 12 of sub-genomes A and D carrying candidate genes for fiber quality. However, chromosome 7 carrying SNPs for stable and potent QTLs related to fiber quality provides great insights for fiber quality-targeted research. This information can be validated by marker-assisted selection (MAS) and transgene in Arabidopsis and subsequently in cotton.

Seasonal changes in recombination characteristics in a natural population of Drosophila melanogaster.

Environmental seasonality is a potent evolutionary force, capable of maintaining polymorphism, promoting phenotypic plasticity and causing bet-hedging. In Drosophila, environmental seasonality has been reported to affect life-history traits, tolerance to abiotic stressors and immunity. Oscillations in frequencies of alleles underlying fitness-related traits were also documented alongside SNPs across the genome. Here, we test for seasonal changes in two recombination characteristics, crossover rate and crossover interference, in a natural D. melanogaster population from India using morphological markers of the three major chromosomes. We show that winter flies, collected after the dry season, have significantly higher desiccation tolerance than their autumn counterparts. This difference proved to hold also for hybrids with three independent marker stocks, suggesting its genetic rather than plastic nature. Significant between-season changes are documented for crossover rate (in 9 of 13 studied intervals) and crossover interference (in four of eight studied pairs of intervals); both single and double crossovers were usually more frequent in the winter cohort. The winter flies also display weaker plasticity of both recombination characteristics to desiccation. We ascribe the observed differences to indirect selection on recombination caused by directional selection on desiccation tolerance. Our findings suggest that changes in recombination characteristics can arise even after a short period of seasonal adaptation (~8-10 generations).

Exploring TERRA during Leishmania major developmental cycle and continuous in vitro passages

Telomeres from different eukaryotes, including trypanosomatids, are transcribed into TERRA noncoding RNAs, crucial in regulating chromatin deposition and telomere length. TERRA is transcribed from the C-rich subtelomeric strand towards the 3′-ends of the telomeric array. Using bioinformatics, we confirmed the presence of subtelomeric splice acceptor sites at all L. major chromosome ends. Splice leader sequences positioned 5′ upstream of L. major chromosomes subtelomeres were then mapped using SL-RNA-Seq libraries constructed from three independent parasite life stages and helped confirm TERRA expression from several chromosomes ends. Northern blots and RT-qPCR validated the results showing that L. major TERRA is processed by trans-splicing and polyadenylation coupled reactions. The number of transcripts varied with the parasite's life stage and continuous passages, being more abundant in the infective forms. However, no putative subtelomeric promoters involved in TERRA's transcriptional regulation were detected. In contrast, the observed changes in parasite's telomere length during development, suggest that differences in telomeric base J levels may control TERRA transcription in L. major. Also, TERRA-R loops' detection, mainly in the infective forms, was suggestive of TERRA's involvement in telomere protection. Therefore, Leishmania TERRA shares conserved features with other eukaryotes and advances new telomere specific functions in a Public Health-impacting parasite.

The genomic architecture of the sex-determining region and sex-related metabolic variation in Ginkgobiloba.

Sex differences and evolutionary differences are critical biological issues. Ginkgo is an ancient lineage of dioecious gymnosperms with special value for studying the mechanism of sex determination in plants. However, the major genetic basic underlying sex chromosomes remains to be uncovered. In this study, we identify the sex-determining region of Ginkgo and locate it to the area from megabases 48 to 75 on chromosome 2. We find that the male sex-determining region of Ginkgo contains more than 200 genes, including four MADS-box genes, demonstrating that the Ginkgo sex determination system is of the XY type. We also find that genetic sex differences result in specialized flavonoid metabolism and regulation in each sex. These findings establish a foundation for revealing the molecular mechanism of sexual dimorphism and promoting the development of the Ginkgo industry.

The Highest Chromosome Number and First Chromosome Fluorescent in situ Hybridization in the velvet worms of the family Peripatidae.

The diversity of Onychophora is poorly studied, despite there being nearly 200 described species divided in two families: Peripatidae and Peripatopsidae. Peripatid velvet worms are found mainly in the Neotropical region. The low morphological diversity in Peripatidae is an obstacle to determining its taxonomy, and chromosomal analyses can help clarify this. The aim of this work was to chromosomally analyze one species of Epiperipatus from Mato Grosso do Sul, Brazil. Conventional staining and telomeric fluorescent in situ hybridization (FISH) were performed with the gonads of three males of Epiperipatus sp. The specimens showed 2n♂ = 73, the largest diploid number found in Onychophora to date, with the majority of chromosomes acro/telocentrics and the largest element submetacentric. The FISH marked the telomeric region of all elements and revealed one Interstitial Telomeric Site (ITS) on the proximal region of the long arm large submetacentric chromosome. The absence of male meiosis and female cell division in the analyzed specimens prevented us from determining whether the unpaired large submetacentric is a sex chromosome, which could lead to the description of a rare sex chromosome system (SCS) in Onychophora, or a case of fusion between autosomes. In either case, the presence of ITS is a clear indication of chromosomal fusion.

A test of genomic modularity among life-history adaptations promoting speciation with gene flow.

Speciation with gene flow may require adaptive divergence of multiple traits to generate strong ecologically based reproductive isolation. Extensive negative pleiotropy or physical linkage of genes in the wrong phase affecting these diverging traits may therefore hinder speciation, while genetic independence or "modularity" among phenotypic traits may reduce constraints and facilitate divergence. Here, we test whether the genetics underlying two components of diapause life history, initial diapause intensity and diapause termination timing, constrain differentiation between sympatric hawthorn and apple-infesting host races of the fly Rhagoletis pomonella through analysis of 10,256 SNPs measured via genotyping-by-sequencing (GBS). Loci genetically associated with diapause termination timing were mainly observed for SNPs mapping to chromosomes 1-3 in the genome, most notably for SNPs displaying higher levels of linkage disequilibrium (LD), likely due to inversions. In contrast, selection on initial diapause intensity affected loci on all five major chromosomes of the genome, specifically those showing low levels of LD. This lack of overlap in genetically associated loci suggests that the two diapause phenotypes are largely modular. On chromosome 2, however, intermediate level LD loci and a subgroup of high LD loci displayed significant negative relationships between initial diapause intensity and diapause termination time. These gene regions on chromosome 2 therefore affected both traits, while most regions were largely independent. Moreover, loci associated with both measured traits also tended to exhibit highly divergent allele frequencies between the host races. Thus, the presence of nonoverlapping genetic modules likely facilitates simultaneous, adaptive divergence for the measured life-history components.

Quantitative Trait Loci and Antagonistic Associations for Two Developmentally Related Traits in the Drosophila Head.

In insects, some developmentally related traits are negatively correlated. Here, we mapped Quantitative Trait Loci (QTL) for traits of eye size and head capsule, in an intercontinental set of recombinant inbred lines (RILs) of Drosophila melanogaster. Composite interval mapping identified QTL on all major chromosomes. Two negatively correlated traits (size of eyes and between-eyes distance) were influenced by one QTL that appeared to be antagonistic between the traits (QTL cytological range is 25F5–30A6), consistent with a negative genetic correlation between these traits of the head capsule. Comparisons of QTL across traits indicated a nonrandom distribution over the genome, with a considerable overlap between some QTL across traits. Developmentally-related traits were influenced by QTL in a pattern that is consistent both with 1) the sign of the genetic correlation between the traits and 2) a constraint in the micro-evolutionary differentiation in the traits.

The large X-effect on secondary sexual characters and the genetics of variation in sex comb tooth number in Drosophila subobscura.

Genetic studies of secondary sexual traits provide insights into whether and how selection drove their divergence among populations, and these studies often focus on the fraction of variation attributable to genes on the X‐chromosome. However, such studies may sometimes misinterpret the amount of variation attributable to the X‐chromosome if using only simple reciprocal F1 crosses, or they may presume sexual selection has affected the observed phenotypic variation. We examined the genetics of a secondary sexual trait, male sex comb size, in Drosophila subobscura. This species bears unusually large sex combs for its species group, and therefore, this trait may be a good candidate for having been affected by natural or sexual selection. We observed significant heritable variation in number of teeth of the distal sex comb across strains. While reciprocal F1 crosses seemed to implicate a disproportionate X‐chromosome effect, further examination in the F2 progeny showed that transgressive autosomal effects inflated the estimate of variation associated with the X‐chromosome in the F1. Instead, the X‐chromosome appears to confer the smallest contribution of all major chromosomes to the observed phenotypic variation. Further, we failed to detect effects on copulation latency or duration associated with the observed phenotypic variation. Overall, this study presents an examination of the genetics underlying segregating phenotypic variation within species and illustrates two common pitfalls associated with some past studies of the genetic basis of secondary sexual traits.

TheSNPpit-A High Performance Database System for Managing Large Scale SNP Data.

The fast development of high throughput genotyping has opened up new possibilities in genetics while at the same time producing considerable data handling issues. TheSNPpit is a database system for managing large amounts of multi panel SNP genotype data from any genotyping platform. With an increasing rate of genotyping in areas like animal and plant breeding as well as human genetics, already now hundreds of thousand of individuals need to be managed. While the common database design with one row per SNP can manage hundreds of samples this approach becomes progressively slower as the size of the data sets increase until it finally fails completely once tens or even hundreds of thousands of individuals need to be managed. TheSNPpit has implemented three ideas to also accomodate such large scale experiments: highly compressed vector storage in a relational database, set based data manipulation, and a very fast export written in C with Perl as the base for the framework and PostgreSQL as the database backend. Its novel subset system allows the creation of named subsets based on the filtering of SNP (based on major allele frequency, no-calls, and chromosomes) and manually applied sample and SNP lists at negligible storage costs, thus avoiding the issue of proliferating file copies. The named subsets are exported for down stream analysis. PLINK ped and map files are processed as in- and outputs. TheSNPpit allows management of different panel sizes in the same population of individuals when higher density panels replace previous lower density versions as it occurs in animal and plant breeding programs. A completely generalized procedure allows storage of phenotypes. TheSNPpit only occupies 2 bits for storing a single SNP implying a capacity of 4 mio SNPs per 1MB of disk storage. To investigate performance scaling, a database with more than 18.5 mio samples has been created with 3.4 trillion SNPs from 12 panels ranging from 1000 through 20 mio SNPs resulting in a database of 850GB. The import and export performance scales linearly with the number of SNPs and is largely independent of panel and database size. Import speed is around 6 mio SNPs/sec, export between 60 and 120 mio SNPs/sec. Being command line based, imports and exports can easily be integrated into pipelines. TheSNPpit is available under the Open Source GNU General Public License (GPL) Version 2.

Third Chromosome Balancer Inversions Disrupt Protein-Coding Genes and Influence Distal Recombination Events in Drosophila melanogaster.

Balancer chromosomes are multiply inverted chromosomes that suppress meiotic crossing over and prevent the recovery of crossover products. Balancers are commonly used in Drosophila melanogaster to maintain deleterious alleles and in stock construction. They exist for all three major chromosomes, yet the molecular location of the breakpoints and the exact nature of many of the mutations carried by the second and third chromosome balancers has not been available. Here, we precisely locate eight of 10 of the breakpoints on the third chromosome balancer TM3, six of eight on TM6, and nine of 11 breakpoints on TM6B. We find that one of the inversion breakpoints on TM3 bisects the highly conserved tumor suppressor gene p53—a finding that may have important consequences for a wide range of studies in Drosophila. We also identify evidence of single and double crossovers between several TM3 and TM6B balancers and their normal-sequence homologs that have created genetic diversity among these chromosomes. Overall, this work demonstrates the practical importance of precisely identifying the position of inversion breakpoints of balancer chromosomes and characterizing the mutant alleles carried by them.

Cell‐free DNA testing: how to choose which laboratory to use?

Cell‐free <scp>DNA</scp> testing: how to choose which laboratory to use?

QTL mapping for salt tolerance in barley at seedling growth stage

Barley (Hordeum vulgare L.), an important food and fodder crop, is potentially tolerant to salinity. To identify quantitative trait loci (QTLs) controlling salt tolerance, the population of 162 recombinant inbred lines (RILs) derived from F8 generation of Arigashar (an extremely salt tolerant Iranian six-rowed barley landrace) crossed with Igri (a salt semi-sensitive two-rowed cultivar) were evaluated. The growth of shoots, roots, and coleoptiles, and root numbers are four important growth characteristics severely affected by salt stress at seedling growth stages. A linkage map was constructed using 106 AFLP and SSR markers spanning six barley chromosomes including 2(2H), 3(3H), 4(4H), 7(5H), 6(6H), and 1(7H). Out of totally 26 detected QTLs, 17 QTLs were found effective for salt tolerance at 250 and 350 mM NaCl which localized on chromosomes 2H, 3H, 4H, 6H, 7H, and linkage group L1, whereas considering equivalent overlapped QTLs with a pleiotropic effect led to detection of totally 9 distinctive QTLs (QClgH2.1b, QSdgH2.1b, QSlgH2.1c, QNrgH2.1b, QTwgH2.2c, QSdg3Hb, QSlg4Hb1, QClg4Hb, and QSlg6Hc2) effective for salinity tolerance. 2(2H), 4(4H), and 6(6H) were major chromosomes harboring QTLs which effectively controlled salt tolerance in the Igri×Arigashar population. An interesting QTL, QTwg4Hc, was localized on chromosome 4H in the XE41-M61 marker distance that controls several traits including shoot and coleoptile lengths and shoot fresh mass under salt stress. A dense marker cluster around a resistance gene could offer a starting point for positional cloning.

Personalized evolutionary hypothesis in genomics and auxiliary lymph node through diverse subtelomeric signal profile.

Few available data on the genomic-somatic evolution in breast cancer create limitation to provide the appropriate clinical managements. As an example, human subtelomeres (ST) are diverse-prone and variable targets. STs, as hot spots, have positive and negative impacts on the status of health and malady. We showed higher subtelomere signal copy number (SCN) of specific chromosomes in genomics than in auxiliary lymph node (ALN). Dissimilarity of signal intensity (SI) is found for all chromosomes. Significantly higher SI in genomics than in ALN cells were specified as chromosomes 5, 6, 9-12, 16-19 for weak; 1, 5-9, 19, X for medium; and 2, 5, 9, 10, 16, 18 for strong SI. For lacking, and presence of one and two SCNs; p/q ratio reflected differences for all chromosomes; but, 2, 3, 5, 7, 8, 10, 16, 18, 20, and X chromosomes were involved for three SCN. Chromosomes 1, 4, 9, 12, 17-19 lacked three SCN in ALN and lymphocytes. Weak SI ratio was higher in p- than in q-arm in majority of chromosomes. Manner of evolution and diversity in p- and q-arms is expressive of a novel definition as two diverse domains with a personalized insight. These data have been accompanied by periodic charts as ST array profiles which provide specific and individualized pattern in breast neoplasm. Such profiling at genomics level could be considered as a prediction through the patients' life. Moreover, subtelomere territory by interacting with protein expression of Ki67, cyclin D1, and cyclin E; and molecular targets including telomere length at genomics and somatic level provides package of information to bridge cancer cell biology to the cancer clinic as "puzzling paradigm."

Repetitive centromeric satellite RNA is essential for kinetochore formation and cell division

Chromosome segregation requires centromeres on every sister chromatid to correctly form and attach the microtubule spindle during cell division. Even though centromeres are essential for genome stability, the underlying centromeric DNA is highly variable in sequence and evolves quickly. Epigenetic mechanisms are therefore thought to regulate centromeres. Here, we show that the 359-bp repeat satellite III (SAT III), which spans megabases on the X chromosome of Drosophila melanogaster, produces a long noncoding RNA that localizes to centromeric regions of all major chromosomes. Depletion of SAT III RNA causes mitotic defects, not only of the sex chromosome but also in trans of all autosomes. We furthermore find that SAT III RNA binds to the kinetochore component CENP-C, and is required for correct localization of the centromere-defining proteins CENP-A and CENP-C, as well as outer kinetochore proteins. In conclusion, our data reveal that SAT III RNA is an integral part of centromere identity, adding RNA to the complex epigenetic mark at centromeres in flies.

Repetitive centromeric satellite RNA is essential for kinetochore formation and cell division.

Chromosome segregation requires centromeres on every sister chromatid to correctly form and attach the microtubule spindle during cell division. Even though centromeres are essential for genome stability, the underlying centromeric DNA is highly variable in sequence and evolves quickly. Epigenetic mechanisms are therefore thought to regulate centromeres. Here, we show that the 359-bp repeat satellite III (SAT III), which spans megabases on the X chromosome of Drosophila melanogaster, produces a long noncoding RNA that localizes to centromeric regions of all major chromosomes. Depletion of SAT III RNA causes mitotic defects, not only of the sex chromosome but also in trans of all autosomes. We furthermore find that SAT III RNA binds to the kinetochore component CENP-C, and is required for correct localization of the centromere-defining proteins CENP-A and CENP-C, as well as outer kinetochore proteins. In conclusion, our data reveal that SAT III RNA is an integral part of centromere identity, adding RNA to the complex epigenetic mark at centromeres in flies.

Chromosomal localization of microsatellite loci in Drosophila mediopunctata

Drosophila mediopunctata has been used as a model organism for genetics and evolutionary studies in the last three decades. A linkage map with 48 microsatellite loci recently published for this species showed five syntenic groups, which had their homology determined to Drosophila melanogaster chromosomes. Then, by inference, each of the groups was associated with one of the five major chromosomes of D. mediopunctata. Our objective was to carry out a genetic (chromosomal) analysis to increase the number of available loci with known chromosomal location. We made a simultaneous analysis of visible mutant phenotypes and microsatellite genotypes in a backcross of a standard strain and a mutant strain, which had each major autosome marked. Hence, we could establish the chromosomal location of seventeen loci; including one from each of the five major linkage groups previously published, and twelve new loci. Our results were congruent with the previous location and they open new possibilities to future work integrating microsatellites, chromosomal inversions, and genetic determinants of physiological and morphological variation.

GENETIC DIVERGENCE ALONG THE SPECIATION CONTINUUM: THE TRANSITION FROM HOST RACE TO SPECIES INRHAGOLETIS(DIPTERA: TEPHRITIDAE)

Studies of related populations varying in their degrees of reproductive isolation can provide insights into speciation. Here, the transition from partially isolated host races to more fully separated sibling species is investigated by comparing patterns of genetic differentiation between recently evolved (∼150 generations) apple and ancestral hawthorn-infesting populations of Rhagoletis pomonella to their sister taxon, the undescribed flowering dogwood fly attacking Cornus florida. No fixed or diagnostic private alleles differentiating the three populations were found at any of 23 microsatellites and 10 allozymes scored. Nevertheless, allele frequency differences were sufficient across loci for flowering dogwood fly populations from multiple localities to form a diagnosable genotypic cluster distinct from apple and hawthorn flies, indicative of species status. Genome-wide patterns of differentiation were correlated between the host races and species pair comparisons along the majority of chromosomes, suggesting that similar disruptive selection pressures affect most loci. However, differentiation was more pronounced, with some additional regions showing elevated divergence, for the species pair comparison. Our results imply that Rhagoletis sibling species such as the flowering dogwood fly represent host races writ large, with the transition to species status primarily resulting from increased divergence of the same regions separating apple and hawthorn flies.