• Volume 93, Issue 1

April 2014,   pages  1-303

• General editorial on publication ethics

• Association studies of dormancy and cooking quality traits in direct-seeded indica rice

Association analysis was applied to a panel of accessions of Assam rice (indica) using 98 SSR markers for dormancy-related traits and cooking quality. Analysis of population structure revealed 10 subgroups in the population. The mean $r^2$ and $D'$ value for all intrachromosomal loci pairs was 0.24 and 0.51, respectively. Linkage disequilibrium between linked markers decreased with distance. Marker-trait associations were investigated using the unified mixed-model approach, considering both population structure (Q) and kinship (K). Genome-wide scanning, detected a total of seven significant marker-trait associations $(P \lt 0.01)$, with the $R^2$ values ranging from 12.0 to 18.0%. The significant marker associations were for grain dormancy (RM27 on chromosome 2), 𝛼-amylase activity (RM27 and RM234 on chromosomes 2 and 7, respectively), germination (RM27 and RM106 on chromosome 2), amylose (RM282 on chromosome 3) and grain length elongation ratio (RM142 on chromosome 4). The present study revealed the association of marker RM27 with traits like dormancy, α-amylase activity and germination. Simple correlation analysis of these traits revealed that these traits were positively correlated with each other and this marker may be useful for simultaneous improvement of these traits. The study indicates the presence of novel QTLs for a few traits under consideration. The study reveals association of traits like dormancy, 𝛼-amylase activity, germination, amylose content, grain length elongation ratio with SSR markers indicating the feasibility of undertaking association analysis in conjunction with germplasm characterization.

• The first genetic linkage map of Eucommia ulmoides

In accordance with pseudo-testcross strategy, the first genetic linkage map of Eucommia ulmoides Oliv. was constructed by an F1 population of 122 plants using amplified fragment length polymorphism (AFLP) markers. A total of 22 AFLP primer combinations generated 363 polymorphic markers. We selected 289 markers segregating as 1:1 and used them for constructing the parent-specific linkage maps. Among the candidate markers, 127 markers were placed on the maternal map LF and 108 markers on the paternal map Q1. The maternal map LF spanned 1116.1 cM in 14 linkage groups with a mean map distance of 8.78 cM; the paternal map Q1 spanned 929.6 cM in 12 linkage groups with an average spacing of 8.61 cM. The estimated coverage of the genome through two methods was 78.5 and 73.9% for LF, and 76.8 and 71.2% for Q1, respectively. This map is the first linkage map of E. ulmoides and provides a basis for mapping quantitative-trait loci and breeding applications.

• Identification of a human ABCC10 orthologue in Catharanthus roseus reveals a U12-type intron determinant for the N-terminal domain feature

ABC (ATP-binding cassette) transporters are members of a large superfamily of proteins that utilize ATP hydrolysis to translocate a wide range of substrates across biological membranes. In general, members of C subfamily (ABCC) are structurally characterized by an additional (N-terminal) transmembrane domain (TMD0). Phylogenetic analysis of plant ABCCs separates their protein sequences into three distinct clusters: I and II are plant specific whereas cluster III contains both human and plant ABCCs. Screening of the Plant Medicinal Genomics Resource database allowed us to identify 16 ABCCs partial sequences in Catharanthus roseus; two of which belong to the unique CrABCC1 transcript that we identified in cluster III. Genomic organization of CrABCC1 TMD0 coding sequence displays an AT-AC U12-type intron that is conserved in higher plant orthologues. We showed that CrABCC1, like its human orthologue ABCC10, produces alternative transcripts that encode protein sequences with a truncated form of TMD0 without the first transmembrane span (TM1). Subcellular localization of CrABCC1 TMD0 variants using yellow fluorescent protein fusions reveals that the TM1 is required for a correct routing of the TMD0 to the tonoplast. Finally, the specific repartition of CrABCC1 orthologues in some species suggests that this gene was lost several times during evolution and that its physiological function may, rely on a common feature of multicellular eukaryotes.

• The 𝛾-gliadin-like 𝛾-prolamin genes in the tribe Triticeae

The 𝛾-prolamins are important components of seed storage proteins in wheat and other Triticeae species. Here, the 𝛾-prolamin genes from the diploid Triticeae species were systemically characterized. Most of the 𝛾-prolamins (except 75 K 𝛾-secalins) characterized were defined as 𝛾-gliadin-like 𝛾-prolamins, since they shared same characteristic model structure with 𝛾-gliadins. Over one-third of these putatively functional 𝛾-prolamin peptides contained different number of cysteine residues as compared to the eight residues present in 𝛾-gliadins. Sequence polymorphism and linkage disequilibrium analyses showed the conservation of 𝛾-prolamin genes in Triticeae species under evolutionary selection. Phylogenetic analyses indicated that these 𝛾-prolamin genes can not be clearly separated according to their genomic origins, reflecting the conservation of 𝛾-gliadin-like 𝛾-prolamin genes after the divergence of Triticeae species. A screening of coeliac disease (CD) toxic epitopes shows that the 𝛾-prolamins from some other genomes contain much fewer epitopes than those from the A, S (B) and D genomes of wheat. These findings contribute to better understanding of 𝛾-prolamin family in Triticeae and build a ground for breeding less CD-toxic wheat cultivars.

• Identification of photoperiod-regulated gene in soybean and functional analysis in Nicotiana benthamiana

Soybean (Glycine max) is a short-day crop and the photoperiod is a crucial factor regulating its flowering time. To investigate the molecular mechanism controlling the flowering time by photoperiod in soybean, cDNA-amplified fragment length polymorphism (cDNA-AFLP) was used to identify photoperiod-regulated genes in leaves of soybean growing under short-day length, neutral photoperiod and long-day length. A total of 36 transcript-derived fragments (TDFs) were identified to be regulated by photoperiod. Among them, 26 TDFs were homologues of genes with known function. These genes are involved in secondary metabolism, cellular metabolism, cell wall components metabolism, ion transport and hormone signalling. Silencing of the homologue genes in Nicotiana benthamiana for 14 TDFs was conducted by virus-induced gene silencing. The flowering time was delayed by silencing of the genes encoding rhodanese and 40S ribosomal protein S4 (RPS4). The results indicated that rhodanese and RPS4 probably play important roles in regulating flowering time.

• Molecular characterization and differential expression of two duplicated odorant receptor genes, AcerOr1 and AcerOr3, in Apis cerana cerana

Insects use olfaction to recognize a wide range of volatile cues, to locate food sources, mates, hosts and oviposition sites. These chemical volatiles are perceived by odorant receptors (ORs) expressed on the dendritic membrane of olfactory neurons, most of which are housed within the chemosensilla of antennae. Most insect ORs are tandemly arrayed on chromosomes and some of them are formed by gene duplication. Here, we identified a pair of duplicated Or genes, AcerOr1 and AcerOr3, from the antennae of the Asian honeybee, Apis cerana cerana, and reported their molecular characterization and temporal expression profiles. The results showed that these two genes shared high similarity both in sequence and the gene structure. Quantitative real-time PCR analysis of temporal expression pattern indicated that in drones the expression pattern of these two genes were very similar. The transcripts expressed weakly in larvae and pupae, then increased gradually in adults. In workers, the expression level of AcerOr1 changed more drastically and expressed higher than that of AcerOr3. However, both reached their highest expression level in one-day-old adults. In addition, the expression profiles between different sexes revealed that AcerOr3 appear to be expressed biased in male antennae. These results suggest that AcerOr1 may perceive odours of floral scents, while AcerOr3 may detect odours critical to male behaviour, such as the queen substance cues.

• Dynamic QTL and epistasis analysis on seedling root traits in upland cotton

Roots are involved in acquisition of water and nutrients, as well as in providing structural support to plant. The root system provides a dynamic model for developmental analysis. Here, we investigated quantitative trait loci (QTL), dynamic conditional QTL and epistatic interactions for seedling root traits using an upland cotton F2 population and a constructed genetic map. Totally, 37 QTLs for root traits, 35 dynamic conditional QTLs based on the net increased amount of root traits (root tips, forks, length, surface area and volume)

1. after transplanting 10 days compared to 5 days, and
2. after transplanting 15 days to 10 days were detected. Obvious dynamic characteristic of QTL and dynamic conditional QTL existed at different developmental stages of root because QTL and dynamic conditional QTL had not been detected simultaneously.

We further confirmed that additive and dominance effects of QTL qRSA-chr1-1 in interval time 5 to 10 DAT (days after transplant) offset the effects in 10 to 15 DAT. Lots of two-locus interactions for root traits were identified unconditionally or dynamically, and a few epistatic interactions were only detected simultaneously in interval time of 5–10 DAT and 10–15 DAT, suggesting different interactive genetic mechanisms on root development at different stages. Dynamic conditional QTL and epistasis effects provide new attempts to understand the dynamics of roots and provide clues for root architecture selection in upland cotton.

• Genomewide analysis of LATERAL ORGAN BOUNDARIES Domain gene family in Zea mays

The investigation of transcription factor (TF) families is a major focus of postgenomic research. The plant-specific ASYMMETRIC LEAVES2-LIKE (ASL) / LATERAL ORGAN BOUNDARIES Domain (LBD) proteins constitute a major zincfinger-like-domain transcription factor family, and regulate diverse biological processes in plants. However, little is known about LBD genes in maize (Zea mays). In this study, a total of 44 LBD genes were identified in maize genome and were phylogenetically clustered into two groups (I and II), together with LBDs from Arabidopsis. The predicted maize LBDs were distributed across all the 10 chromosomes with different densities. In addition, the gene structures of maize LBDs were analysed. The expression profiles of the maize LBD genes under normal growth conditions were analysed by microarray data and qRT-PCR. The results indicated that LBDs might be involved in various aspects of physiological and developmental processes in maize. To our knowledge, this is the first report of a genomewide analysis of the maize LBD gene family, which would provide valuable information for understanding the classification and putative functions of the gene family.

• Genomewide survey and characterization of metacaspase gene family in rice (Oryza sativa)

Metacaspases (MCs), which are cysteine-dependent proteases found in plants, fungi, and protozoa, may be involved in programmed cell death processes, being distant relatives of metazoan caspases. In this study, we analysed the structures, phylogenetic relationship, genome localizations, expression patterns and domestic selections of eight MC genes identified in rice (OsMC). Alignment analysis of the corresponding protein sequences suggested OsMC proteins can be classified into two sub-types. The expression profiles of eight OsMC genes were analysed in 27 tissues covering the whole life cycle of rice. There are four OsMC genes uniquely expressed in mature tissues, indicating that these genes might play certain roles in senescence. Under abiotic and biotic stresses, four OsMC genes were expressed with treatments of one or more of Magnaporthe oryzae (M. oryzae) infected, pest damaged, cold stress and drought stress, indicating they might be involved in plant defense. In addition, gene trees and genetic diversity $(\pi)$ were performed to measure whether candidate genes were selected during rice domestication. The results suggested that all the type I genes could not be domestication genes. However, two of five type II OsMC genes showed strong evidence for selective sweep, suggesting that these genes might be involved in cultivated rice domestication. These results provide a foundation for future functional genomic studies of this family in rice.

• Effects of body-size variation on flight-related traits in latitudinal populations of Drosophila melanogaster

In the present study, we tested the hypothesis whether flight-related traits such as wing area, flight-muscle ratio, wing loading and dispersal yield evidence of geographical variation in nine wild-collected as well as laboratory-reared (at 21°C) latitudinal populations of Drosophila melanogaster from the Indian subcontinent. We observed positive clinal variation in the wing–thorax ratio, wing aspect ratio and wing area, along a latitudinal gradient for both the sexes. In contrast, geographical changes in three parameters of flight ability, i.e. flight-muscle ratio, wing loading and dispersal, showed negative correlation with latitude. On the basis of isofemale line variability, we observed positive correlation of wing loading with flight-muscle ratio as well as dispersal behaviour in both the sexes. We also found positive correlation between duration of development and wing area. Interestingly, southern populations of D. melanogaster from warm and humid habitats exhibited higher flight-muscle ratio as well as the higher wing loading than northern populations which occur in cooler and drier climatic conditions. Laboratory tests for dispersal-related walking behaviour showed significantly higher values for southern populations compared with northern populations of D. melanogaster. Multiple regression analysis of geographical changes in flight-muscle ratio, wing loading as well as walking behaviour as a function of average temperature and relative humidity of the origin of populations in wild-collected flies have suggested adaptive changes in flight-related traits in response to steeper gradients of climatic factors in the Indian subcontinent. Finally, adaptive latitudinal variations in flight-related traits in D. melanogaster are consistent with results of other studies from different continents despite differences due to specific climatic conditions in the Indian subcontinent.

• Study of inheritance of feeding potential in natural populations of predatory coccinellid Cryptolaemus montrouzieri Mulsant using isofemale strains

The ability to feed on the prey is of great concern for the predatory insects, especially with regard to predatory coccinellid, Cryptolaemus montrouzieri Mulsant, which is mass reared and released into the field in large numbers to control the target pests. The variability associated with feeding potential is partly influenced by the genetic background of the insects and partly due to the environment, but the genetic basis of this trait is not yet fully understood in C. montrouzieri. The aim of this study was to identify the genetic basis of variation and heritability of this quantitative trait in natural populations of C. montrouzieri through isofemale heritability and parent–offspring regression. The regression analyses indicated that there was a significant linear relationship between progeny and their mothers for feeding potential.

• A unifying study of phenotypic and molecular genetic variability in natural populations of Anadenanthera colubrina var. cebil from Yungas and Paranaense biogeographic provinces in Argentina

Anadenanthera colubrina var. cebil is a discontinuously distributed native tree species in South American subtropical forests. Thirteen quantitative traits and eight nuclear microsatellite loci were examined in individuals from two biogeographic provinces of Argentina to determine the number and composition of genetically distinguishable groups of individuals and explore possible spatial patterns of the phenotypic and genetic variability. Means of reproductive traits were higher in the Yungas than in the Paranaense biogeographic province, whereas five out of eight nonreproductive quantitative traits showed higher mean values in the latter. Variance coefficients were moderate, and there were significant differences between and within provinces. Three clusters were defined based on spatial model for cluster membership for quantitative traits. One cluster grouped the individuals from the Paranaense biogeographic province whereas the individuals from the Yungas biogeographic province grouped regarding its population of origin. Parameters of molecular genetic variability showed higher values in the Yungas than in the Paranaense biogeographic province. Observed heterozygosity was lower than expected heterozygosity in both biogeographic provinces, indicating an excess of homozygosity. The homozygosity test by Watterson and the exact test by Slatkin suggested diversifying selection for locus Ac41.1. Bayesian clustering spatial model for microsatellites loci data were performed for both all loci and for all loci excluding locus Ac41.1. In both analyses two clusters were inferred. Analysis of molecular variance revealed similar results for all genotypes and for all genotypes defined excluding locus Ac41.1. Most of the total variance is attributable to genetic variation within clusters. The presence of homogeneous clusters was detected for both the phenotypic and molecular genetic variability. Two Bayesian clustering analyses were performed according to molecular genetic data, and two clusters were inferred. Individuals were assigned to their provinces of origin. Genetic molecular variation was higher in the populations of the Yungas biogeographic province which translates into highly qualified populations for conservation. Populations from the Paranaense biogeographic province showed the highest mean value of number of seeds per fruit making them valuable as well with regard to the exploitation of management strategies as a means to recover the impacted areas where these populations are located.

• Intraspecific chromosomal and genetic polymorphism in Brassica napus L. detected by cytogenetic and molecular markers

The application of DNA intercalator 9-aminoacridine allowed us to increase the resolution of chromosome C-banding and DAPI-banding patterns and to investigate chromosomal polymorphism in karyotypes of seven spring and six winter rape varieties. It was shown that the pericentromeric and intercalary C-bands of most of the chromosomes in spring rape were smaller in size and less polymorphic than those of winter rape. More 26S and 5S rDNA sites were found in the winter rape karyotypes than the spring varieties. Separate or colocalized 26S and 5S rDNA sites were revealed on chromosomes 4, 5, 6, 8, 10, 14, 15, 16 and 18. Intervarietal and intravarietal polymorphism of the number and chromosomal localization of rDNA sites were detected. The generalized idiogram of chromosomes of 13 Brassica napus varieties with account of all possibilities of C-banding patterns as well as localization of 26S and 5S rDNA sites were constructed. Polymorphism of the examined molecular and cytogenetic markers as well as the heterozygosis level of FAE1.1 gene controlling erucic acid synthesis in rapeseed was higher in the winter varieties than in the spring ones. The obtained data were in a satisfactory agreement with increased tolerance to environmental stress conditions of winter rape.

• Cloning and in silico analysis of a cinnamyl alcohol dehydrogenase gene in Pennisetum purpureum

Lignin is a major constituent of plant cell walls and indispensable to the normal growth of a plant. However, the presence of lignin complicates the structure of the plant cell walls and negatively influences pulping industry, lignocellulose utilization as well as forage properties. Cinnamyl alcohol dehydrogenase (CAD), a key enzyme involved in lignin biosynthesis, catalyses the last step in monolignol synthesis and has a major role in genetic regulation of lignin production. In the present study, a 1 342-bp cDNA fragment of CAD gene, named PpCAD, was isolated from Pennisetum purpureum using strategies of homologous clone and rapid amplification of cDNA end. It was translated into an intact protein sequence including 366 amino acid residues by ORF Finder. The genomic full-length DNA of PpCAD was a 3 738-bp sequence containing four exons and three introns, among which the 114-bp exon was considered to be a conserved region compared with other CADs. Basic bioinformatic analysis presumed that the PpCAD was a nonsecretory and hydrophobic protein with five possible transmembrane helices. The phylogenetic analysis indicated that the PpCAD belonged to the class of bona fide CADs involved in lignin synthesis and it showed a high similarity (nearly 90%) with CAD protein sequences of Sorghum bicolor, Panicum virgatum and Zea mays in Gramineae. Furthere, PpCAD amino acid sequence was demonstrated to have some conserved motifs such as Zn-binding site, Zn-catalytic centre and NADP(H) binding domain after aligning with other bona fide CADs. Three-dimensional homology modelling of PpCAD showed that the protein had some exclusive features of bona fide CADs.

• A novel 5p15.33-14.1 deletion and 4q34.24-35.2 duplication in a patient with mental retardation, dysmorphic features and severe speech delay

• Phylogeny of endemic skinks of the genus Lygosoma (Squamata: Scincidae) from India suggests an in situ radiation

• A novel TSC2 mutation in a Chinese family with tuberous sclerosis complex

• Compound mitochondrial DNA mutations in a neurological patient with ataxia, myoclonus and deafness

• Carrier screening for spinal muscular atrophy in Italian population

• Structural rearrangements detected in newly-formed hexaploid tritordeum after three sequential FISH experiments with repetitive DNA sequences

• Concurrent psu dic(21)(q22.3) and t(13;17)(q14.1;p12) in a mosaic Down’s syndrome patient: review of thirty-one similar dicentrics

• Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population

• P chromosomes involved in intergenomic rearrangements of Kengyilia thoroldiana affected by the environment

• Genetics of growth habit and photoperiodic response to flowering time in dolichos bean (Lablab purpureus (L.) Sweet)

• High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications

• Association between HLA-DQA1 gene copy number polymorphisms and susceptibility to rheumatoid arthritis in Chinese Han population

• Chromosome variant 1qh− and its influence on the 3D organization of chromosome 1 heterochromatin in interphase nucleus of patients with endometriosis

• A novel noncontiguous duplication in the DMD gene escapes the ‘reading-frame rule’

• The 𝐺 allele at the g.70014208A>G in the MYBPC1 gene associated with high marbling in Japanese Black cattle is at a low frequency in breeds not selected for marbling

• Association between the IFN-𝛾 and IL-1 genetic polymorphisms and colorectal cancer in the Chinese Han population

• Genetics of dioecy and causal sex chromosomes in plants

Dioecy (separate male and female individuals) ensures outcrossing and is more prevalent in animals than in plants. Although it is common in bryophytes and gymnosperms, only 5% of angiosperms are dioecious. In dioecious higher plants, flowers borne on male and female individuals are, respectively deficient in functional gynoecium and androecium. Dioecy is inherited via three sex chromosome systems: XX/XY, XX/X0 and WZ/ZZ, such that XX or WZ is female and XY, X0 or ZZ are males. The XX/XY system generates the rarer XX/X0 andWZ/ZZ systems. An autosome pair begets XY chromosomes. A recessive loss-of-androecium mutation (ana) creates X chromosome and a dominant gynoecium-suppressing (GYS) mutation creates Y chromosome. The ana/ANA and gys/GYS loci are in the sex-determining region (SDR) of the XY pair. Accumulation of inversions, deleterious mutations and repeat elements, especially transposons, in the SDR of Y suppresses recombination between X and Y in SDR, making Y labile and increasingly degenerate and heteromorphic from X. Continued recombination between X and Y in their pseudoautosomal region located at the ends of chromosomal arms allows survival of the degenerated Y and of the species. Dioecy is presumably a component of the evolutionary cycle for the origin of new species. Inbred hermaphrodite species assume dioecy. Later they suffer degenerate-Y-led population regression. Cross-hybridization between such extinguishing species and heterologous species, followed by genome duplication of segregants from hybrids, give rise to new species.

• Genetic controls on starch amylose content in wheat and rice grains

Starch accumulates in plants as granules in chloroplasts of source organs such as leaves (transitory starch) or in amyloplasts of sink organs such as seeds, tubers and roots (storage starch). Starch is composed of two types of glucose polymers: the essentially linear polymer amylose and highly branched amylopectin. The amylose content of wheat and rice seeds is an important quality trait, affecting the nutritional and sensory quality of two of the world’s most important crops. In this review, we focus on the relationship between amylose biosynthesis and the structure, physical behaviour and functionality of wheat and rice grains. We briefly describe the structure and composition of starch and then in more detail describe what is known about the mechanism of amylose synthesis and how the amount of amylose in starch might be controlled. This more specifically includes analysis of GBSS alleles, the relationship between waxy allelic forms and amylose, and related quantitative trait loci. Finally, different methods for increasing or lowering amylose content are evaluated.

• The birth and development of the DNA theory of inheritance: sixty years since the discovery of the structure of DNA

The development of the DNA theory of inheritance culminated in the publication of the molecular structure of DNA 60 years ago. This paper describes this development, beginning with the discovery of DNA as a chemical substance by Friedrich Miescher in 1869, followed by its basic chemical analysis and demonstration of its participation in the structure of chromosomes. Subsequently it was discovered by Oswald Avery in 1944 that DNA was the genetic material, and then Erwin Chargaff showed that the proportions of the bases included in the structure of DNA followed a certain law. These findings, in association with the biophysical studies of Maurice Wilkins and Rosalind Franklin with Raymond Gosling, led James Watson and Francis Crick to the discovery of the double-helical structure of DNA in 1953. The paper ends with a short description of the development of the DNA theory of inheritance after the discovery of the double helix.

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