Use of Synteny Conversion in Identification of Candidate Genes for Somitogenesis in Humans

Understanding the genetic component of scoliosis in humans has relied on the assumption that spine development is conserved across species. Since evolutionary conserved genes tend to lie within synteny blocks (HSBs) and genes which are not conserved lie within evolutionary breakpoint regions (EBRs), HSB analysis may be used to determine if spine development is conserved across species. We hypothesized that vertebral patterning genes are conserved in amniotes and their location is within stable or “syntenic” regions of chromosomes. Seventy seven patterning genes involved in Fgf, Wnt and Notch signaling pathways were analyzed to determine their location within HSBs or EBRs in the genomes of several amniotic species. The human genome was divided into 1 Mbp intervals and a comparison was made to determine whether these genes were preferentially localized within HSBs or EBRs associated with rapid evolution. The results indicate that genes associated with somite development in humans are preferentially located away from the EBRs: 0.014 genes in EBRs on genome average vs. 0.030 on average in other parts of the genome (p-value = 0.01). The concentration of vertebral patterning genes in HSBs, provides evidence that developmental pathways involved in vertebral morphogenesis are likely conserved across amniotes, consistent with their known function. These data support prior observations indicating that gene networks associated with major developmental processes such as neuronal, central nervous system, bone and blood vessel development, some mediated by Wnt and Notch signaling pathways, were less likely to be localized at EBRs.

Genome-wide identification and expression profiling of photosystem II(PsbX)gene family in upland cotton(Gossypium hirsutum L.)

Background Photosystem II(PSII)constitutes an intricate assembly of protein pigments,featuring extrinsic and intrinsic polypeptides within the photosynthetic membrane.The low-molecular-weight transmembrane protein PsbX has been identified in PSII,which is associated with the oxygen-evolving complex.The expression of PsbX gene protein is regulated by light.PsbX’s central role involves the regulation of PSII,facilitating the binding of quinone molecules to the Qb(PsbA)site,and it additionally plays a crucial role in optimizing the efficiency of photosynthesis.Despite these insights,a comprehensive understanding of the PsbX gene’s functions has remained elusive.Results In this study,we identified ten PsbX genes in Gossypium hirsutum L.The phylogenetic analysis results showed that 40 genes from nine species were classified into one clade.The resulting sequence logos exhibited substantial conservation across the N and C terminals at multiple sites among all Gossypium species.Furthermore,the ortholo-gous/paralogous,Ka/Ks ratio revealed that cotton PsbX genes subjected to positive as well as purifying selection pressure might lead to limited divergence,which resulted in the whole genome and segmental duplication.The expression patterns of GhPsbX genes exhibited variations across specific tissues,as indicated by the analysis.Moreover,the expression of GhPsbX genes could potentially be regulated in response to salt,intense light,and drought stresses.Therefore,GhPsbX genes may play a significant role in the modulation of photosynthesis under adverse abiotic conditions.Conclusion We examined the structure and function of PsbX gene family very first by using comparative genom-ics and systems biology approaches in cotton.It seems that PsbX gene family plays a vital role during the growth and development of cotton under stress conditions.Collectively,the results of this study provide basic information to unveil the molecular and physiological function of PsbX genes of cotton plants.

Synteny search identifies carnivore Y chromosome for evolution of male specific genes

The explosive accumulation of mammalian genomes has provided a valuable resource to characterize the evo­lution of the Y chromosome.Unexpectedly,the Y-chromosome sequence has been characterized in only a small handful of species,with the majority being model organisms.Thus,identification of Y-linked scaffolds from un­ordered genome sequences is becoming more important.Here,we used a syntenic-based approach to generate the scaffolds of the male-specific region of the Y chromosome(MSY)from the genome sequence of 6 male car­nivore species.Our results identified 14,15,9,28,14 and 11 Y-linked scaffolds in polar bears,pacific walruses,red pandas,cheetahs,ferrets and tigers,covering 1.55 Mbp,2.62 Mbp,964 Kb,1.75 Mb,2.17 Mbp and 1.84 Mb MSY,respectively.All the candidate Y-linked scaffolds in 3 selected species(red pandas,polar bears and ti­gers)were successfully verified using polymerase chain reaction.We re-annotated 8 carnivore MSYs including these 6 Y-linked scaffolds and domestic dog and cat MSY;a total of 11 orthologous genes conserved in at least 7 of the 8 carnivores were identified.These 11 Y-linked genes have significantly higher evolutionary rates com­pared with their X-linked counterparts,indicating less purifying selection for MSY genes.Taken together,our study shows that the approach of synteny search is a reliable and easily affordable strategy to identify Y-linked scaffolds from unordered carnivore genomes and provides a preliminary evolutionary study for carnivore MSY genes.

Characterization of the cyp19a1a gene from a BAC sequence in half-smooth tongue sole (Cynoglossus semilaevis) and analysis of its conservation among teleosts

The cyp19ala gene encodes an aromatase that plays a key role in sex differentiation of the gonad. The first bacterial artificial chromosome （BAC） sequence of half-smooth tongue sole （Cynoglossus sernilaeuis） containing the intact cyp19ala gene was reported and the conservation and synteny of the cyp19ala gene among teleosts were analyzed in the study. The BAC is 107 367 bp in size, with an overall guanine-cytosine （GC） content of 43.44%, and contains 4.38% transposable elements. Nine genes were predicted, including seven functional genes and two hypothetical genes. The cyp19ala gene of all tested teleosts has nine exons and eight introns, and potential binding sites flanking the transcriptional start site are conserved. The ex- pression pattern among teleosts is also similar during ovarian differentiation. Synteny analysis revealed a conserved gene cluster PKH4B-SL9A5-FHOD3-CEBPG-CEBPA among teleosts. These findings suggest that, among teleosts, cyp19ala genes not only have similar genomic structures, but also have conserved function- s. The genomic environment of cyp19ala in tongue sole is not universal in teleosts, reflecting the particular evolution of tongue sole cyp19ala after it diverged from the other teleosts.

Genetic Linkage Map and Comparative Genome Analysis for the Atlantic Killifish (Fundulus heteroclitus)

Genetic linkage maps are valuable tools in evolutionary biology;however, their availability for wild populations is extremely limited. Fundulus heteroclitus (Atlantic killifish) is a non-migratory estuarine fish that exhibits high allelic and phenotypic diversity partitioned among subpopulations that reside in disparate environmental conditions. An ideal candidate model organism for studying gene-environment interactions, the molecular toolbox for F. heteroclitus is limited. We identified hundreds of novel microsatellites which, when combined with existing microsatellites and single nucleotide polymorphisms (SNPs), were used to construct the first genetic linkage map for this species. By integrating independent linkage maps from three genetic crosses, we developed a consensus map containing 24 linkage groups, consistent with the number of chromosomes reported for this species. These linkage groups span 2300 centimorgans (cM) of recombinant genomic space, intermediate in size relative to the current linkage maps for the teleosts, medaka and zebrafish. Comparisons between fish genomes support a high degree of synteny between the consensus F. heteroclitus linkage map and the medaka and (to a lesser extent) zebrafish physical genome assemblies.

Rice-wheat comparative genomics:Gains and gaps

Rice and wheat provide nearly 40%of human calorie and protein requirements.They share a common ancestor and belong to the Poaceae(grass)family.Characterizing their genetic homology is crucial for developing new cultivars with enhanced traits.Several wheat genes and gene families have been characterized based on their rice orthologs.Rice–wheat orthology can identify genetic regions that regulate similar traits in both crops.Rice–wheat comparative genomics can identify candidate wheat genes in a genomic region identified by association or QTL mapping,deduce their putative functions and biochemical pathways,and develop molecular markers for marker-assisted breeding.A knowledge of gene homology facilitates the transfer between crops of genes or genomic regions associated with desirable traits by genetic engineering,gene editing,or wide crossing.

Genomic organization and sequence dynamics of the AvrPiz-t locus in Magnaporthe oryzae

Plants utilize multiple layers of defense mechanisms to fight against the invasion of diverse pathogens.The R gene mediates resistance,in most cases,dependent on the co-existence of its cognate pathogen-derived avirulence (Avr) gene.The rice blast R gene Piz-t corresponds in gene-for-gene fashion to the Magnaporthe oryzae Avr gene AvrPiz-t.In this study,we determined and compared the genomic sequences surrounding the AvrPiz-t gene in both avirulent and virulent isolates,designating as AvrPiz-t-ZB15 and avrPiz-t-70-15 regions,respectively.The sequence of the AvrPiz-t-ZB15 region is 120966 bp whereas avrPiz-t-70-15 is 146292 bp in length.The extreme sequence similarity and good synteny in gene order and content along with the absence of two predicted genes in the avrPiz-t-70-15 region were observed in the predicted protein-coding regions in the AvrPiz-t locus.Nevertheless,frequent presence/absence and highly dynamic organization of transposable elements (TEs) were identified,representing the major variation of the AvrPiz-t locus between different isolates.Moreover,TEs constitute 27.3% and 43.2% of the genomic contents of the AvrPiz-t-ZB15 and avrPiz-t-70-15 regions,respectively,indicating that TEs contribute largely to the organization and evolution of AvrPiz-t locus.The findings of this study suggest that M.oryzae could benefit in an evolutionary sense from the presence of active TEs in genes conferring avirulence and provide an ability to rapidly change and thus to overcome host R genes.

Development of specific chromosomal DNA pool for rice field eel and their application to gene mapping

The chromosomes 1, 3, 5, 6, 7,10 and 12 of rice field eel (Monopterus albus Zuiew) have been microdissected successfully from meiosis I diakinesis spreads by using glass microneedlc under an inverted microscope. And the DOP-PCR products of the single chromosome dotted on the nylon membrane as 'specific chromosomal DNA pool', have been hybridized with 6 probes to map these genes. The mapping results show that Zfa has been mapped to chromosome 1, rDNA to chromosomes 3 and 7, both Gh and Pdegγto chromosome 10, Hsl to chromosome 5 and Hox genes have been detected on chromosomes 1, 3, 6 and 10 meantime. It has initiatively been suggested that chromosome 10 of rice field eel might possess the commom conserved synteny to that on chromosome 17 of human, chromosome 11 of mouse, chromosome 12 of pig and chromosome 19 of bovine. And so chromosome 3 of rice field eel might also contain the commom conserved synteny to that on chromosome 2 of zebraf-ish. Our study is an attempt to establish a new and feasible

Genome-Wide Comparative in silico Analysis of Calcium Transporters of Rice and Sorghum

The mechanism of calcium uptake, translocation and accumulation in Poaceae has not yet been fully understood. To address this issue, we conducted genome-wide comparative in silico analysis of the calcium （Ca2＋） transporter gene family of two crop species, rice and sorghum. Gene annotation, identification of upstream cis-acting ele- ments, phylogenetic tree construction and syntenic mapping of the gene family were performed using several bio- informatics tools. A total of 31 Ca2＋ transporters, distributed on 9 out of 12 chromosomes, were predicted from rice genome, while 28 Ca2＋ transporters predicted from sorghum are distributed on all the chromosomes except chromosome 10 （Chr 10）. Interestingly, most of the genes on Chr 1 and Chr 3 show an inverse syntenic relation- ship between rice and sorghum. Multiple sequence alignment and motif analysis of these transporter proteins re- vealed high conservation between the two species. Phylogenetic tree could very well identify the subclasses of channels, ATPases and exchangers among the gene family. The in silico c/s-regulatory element analysis suggested diverse functions associated with light, stress and hormone responsiveness as well as endosperm- and meris- tem-specific gene expression. Further experiments are warranted to validate the in silico analysis of the predicted transporter gene family and elucidate the functions of Ca2＋ transporters in various biological processes.

Gene capture by transposable elements leads to epigenetic conflict in maize

Transposable elements(TEs)regularly capture fragments of genes.When the host silences these TEs,siRNAs homologous to the captured regions may also target the genes.This epigenetic crosstalk establishes an intragenomic conflict:silencing the TEs has the cost of silencing the genes.If genes are important,however,natural selection may maintain function by moderating the silencing response,which may also advantage the TEs.In this study,we examined this model by focusing on Helitrons,Pack-MULEs,and Sirevirus LTR retrotransposons in the maize genome.We documented 1263 TEs containing exon fragments from 1629 donor genes.Consistent with epigenetic conflict,donor genes mapped more siRNAs and were more methylated than genes with no evidence of capture.However,these patterns differed between syntelog versus translocated donor genes.Syntelogs appeared to maintain function,as measured by gene expression,consistent with moderation of silencing for functionally important genes.Epigenetic marks did not spread beyond their captured regions and 24nt crosstalk siRNAs were linked with CHH methylation.Translocated genes,in contrast,bore the signature of silencing.They were highly methylated and less expressed,but also overrepresented among donor genes and located away from chromosomal arms,which suggests a link between capture and gene movement.Splitting genes into potential functional categories based on evolutionary constraint supported the synteny-based findings.TE families captured genes in different ways,but the evidence for their advantage was generally less obvious;nevertheless,TEs with captured fragments were older,mapped fewer siRNAs,and were slightly less methylated than TEs without captured fragments.Collectively,our results argue that TE capture triggers an intragenomic conflict that may not affect the function of important genes but may lead to the pseudogenization of less-constrained genes.

Evolution of TWIN SISTER of FT(TSF) Genes in Brassicaceae

FT and its homolog, TWIN SISTER OF FT(TSF), act redundantly as integrators in flora transition pathways in Arabidopsis thaliana. The evolution of these key fl wering regulatory genes during Brassicaceae speciation has not been well studied; therefore, we investigated their evolution in 13 sequenced Brassicaceae species. While the phylogenetic analysis indicated that FT gene evolution has followed two independent lineagespecifi routes, TSF evolution does not appear to have been completely consistent within the Brassicaceae lineage I and lineage II division. The two TSF copies in the Thellungiella genus were divided into A and B groups in the phylogenetic analysis. Examination of conserved non-coding sequences and conserved domains within a 5 kb region upstream of the TSF start codon revealed the same group division inferred by the phylogenetic analysis. In addition, TSF genes retained syntenic relationships among genes in the same group, but not between group A and group B.The two copies of the TSF gene in the Thellungiella species were syntenic to the TSF genes in group A and group B, respectively. We also identifie TSF-A gene residues in the syntenic region of group B species, but no TSF-B residues could be found in the group A syntenic region. Therefore,we inferred that the TSF genes in lineage II species experienced a duplication event after diversificatio from lineage I. Following their split from Thellungiella, Brassica species lost the ancestral TSF gene and retained the duplicated copy.