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1.
Plant J ; 116(1): 282-302, 2023 10.
Article in English | MEDLINE | ID: mdl-37159480

ABSTRACT

Wind, rain, herbivores, obstacles, neighbouring plants, etc. provide important mechanical cues to steer plant growth and survival. Mechanostimulation to stimulate yield and stress resistance of crops is of significant research interest, yet a molecular understanding of transcriptional responses to touch is largely absent in cereals. To address this, we performed whole-genome transcriptomics following mechanostimulation of wheat, barley, and the recent genome-sequenced oat. The largest transcriptome changes occurred ±25 min after touching, with most of the genes being upregulated. While most genes returned to basal expression level by 1-2 h in oat, many genes retained high expression even 4 h post-treatment in barley and wheat. Functional categories such as transcription factors, kinases, phytohormones, and Ca2+ regulation were affected. In addition, cell wall-related genes involved in (hemi)cellulose, lignin, suberin, and callose biosynthesis were touch-responsive, providing molecular insight into mechanically induced changes in cell wall composition. Furthermore, several cereal-specific transcriptomic footprints were identified that were not observed in Arabidopsis. In oat and barley, we found evidence for systemic spreading of touch-induced signalling. Finally, we provide evidence that both the jasmonic acid-dependent and the jasmonic acid-independent pathways underlie touch-signalling in cereals, providing a detailed framework and marker genes for further study of (a)biotic stress responses in cereals.


Subject(s)
Arabidopsis , Hordeum , Touch , Edible Grain/genetics , Arabidopsis/genetics , Hordeum/genetics , Triticum/genetics , Transcriptome , Gene Expression Regulation, Plant/genetics
2.
Nat Commun ; 14(1): 1915, 2023 04 17.
Article in English | MEDLINE | ID: mdl-37069152

ABSTRACT

Under-utilised orphan crops hold the key to diversified and climate-resilient food systems. Here, we report on orphan crop genomics using the case of Lablab purpureus (L.) Sweet (lablab) - a legume native to Africa and cultivated throughout the tropics for food and forage. Our Africa-led plant genome collaboration produces a high-quality chromosome-scale assembly of the lablab genome. Our assembly highlights the genome organisation of the trypsin inhibitor genes - an important anti-nutritional factor in lablab. We also re-sequence cultivated and wild lablab accessions from Africa confirming two domestication events. Finally, we examine the genetic and phenotypic diversity in a comprehensive lablab germplasm collection and identify genomic loci underlying variation of important agronomic traits in lablab. The genomic data generated here provide a valuable resource for lablab improvement. Our inclusive collaborative approach also presents an example that can be explored by other researchers sequencing indigenous crops, particularly from low and middle-income countries (LMIC).


Subject(s)
Fabaceae , Metagenomics , Plant Breeding , Crops, Agricultural/genetics , Genome, Plant/genetics , Fabaceae/genetics , Chromosomes
3.
Nature ; 606(7912): 113-119, 2022 06.
Article in English | MEDLINE | ID: mdl-35585233

ABSTRACT

Cultivated oat (Avena sativa L.) is an allohexaploid (AACCDD, 2n = 6x = 42) thought to have been domesticated more than 3,000 years ago while growing as a weed in wheat, emmer and barley fields in Anatolia1,2. Oat has a low carbon footprint, substantial health benefits and the potential to replace animal-based food products. However, the lack of a fully annotated reference genome has hampered efforts to deconvolute its complex evolutionary history and functional gene dynamics. Here we present a high-quality reference genome of A. sativa and close relatives of its diploid (Avena longiglumis, AA, 2n = 14) and tetraploid (Avena insularis, CCDD, 2n = 4x = 28) progenitors. We reveal the mosaic structure of the oat genome, trace large-scale genomic reorganizations in the polyploidization history of oat and illustrate a breeding barrier associated with the genome architecture of oat. We showcase detailed analyses of gene families implicated in human health and nutrition, which adds to the evidence supporting oat safety in gluten-free diets, and we perform mapping-by-sequencing of an agronomic trait related to water-use efficiency. This resource for the Avena genus will help to leverage knowledge from other cereal genomes, improve understanding of basic oat biology and accelerate genomics-assisted breeding and reanalysis of quantitative trait studies.


Subject(s)
Avena , Edible Grain , Genome, Plant , Avena/genetics , Diploidy , Edible Grain/genetics , Genome, Plant/genetics , Mosaicism , Plant Breeding , Tetraploidy
4.
Methods Mol Biol ; 2443: 147-159, 2022.
Article in English | MEDLINE | ID: mdl-35037204

ABSTRACT

To unlock the genetic potential in crops, multi-genome comparisons are an essential tool. Decreasing costs and improved sequencing technologies have democratized plant genome sequencing and led to a vast increase in the amount of available reference sequences on the one hand and enabled the assembly of even the largest and most complex and repetitive crops genomes such as wheat and barley. These developments have led to the era of pan-genomics in recent years. Pan-genome projects enable the definition of the core and dispensable genome for various crop species as well as the analysis of structural and functional variation and hence offer unprecedented opportunities for exploring and utilizing the genetic basis of natural variation in crops. Comparing, analyzing, and visualizing these multiple reference genomes and their diversity requires powerful and specialized computational strategies and tools.


Subject(s)
Hordeum , Crops, Agricultural/genetics , Genome, Plant , Genomics , Hordeum/genetics , Triticum/genetics
6.
Therapie ; 77(1): 133-147, 2022.
Article in English | MEDLINE | ID: mdl-35034780

ABSTRACT

Digital health is currently booming, providing major innovations, particularly in terms of changing the practices of the stakeholders in the healthcare system as a whole. It allows our healthcare system to draw on new synergies between independent, hospital and medico-social professionals, as well as on high-performance digital tools for the benefit of all, users, patients and professionals. These tools, or digital solutions, have a strong potential to improve the healthcare system but also a strong potential for economic development. In this respect, the great diversity of existing and future digital solutions, as well as their vast fields of application, are prompting public and private stakeholders in the sector to question their integration into our healthcare system. The resulting challenges concern the identification of the targets they are intended for, the values they embody and, as a result, the methods of funding and evaluation. At a time when the first reimbursement terms for digital solutions are taking shape in the context of the Social Security Financing Bill for 2022, the roundtable wished to propose 8 recommendations to help structure exchanges between the various stakeholders and initiate avenues of work around the integration of digital solutions into the healthcare system. The main orientations are based on the proposal of a common and transparent reflection methodology around the technical scope of these solutions, the values they bring and the funding mechanisms. Other work will be necessary beyond the points addressed by the round table in order to go into greater depth on certain themes such as the adaptation of existing funding methods to the momentum and specificities of digital technology or the development of research work on the evaluation of the value claimed by these digital solutions.


Subject(s)
Delivery of Health Care , Hospitals , Humans
7.
Nature ; 588(7837): 284-289, 2020 12.
Article in English | MEDLINE | ID: mdl-33239781

ABSTRACT

Genetic diversity is key to crop improvement. Owing to pervasive genomic structural variation, a single reference genome assembly cannot capture the full complement of sequence diversity of a crop species (known as the 'pan-genome'1). Multiple high-quality sequence assemblies are an indispensable component of a pan-genome infrastructure. Barley (Hordeum vulgare L.) is an important cereal crop with a long history of cultivation that is adapted to a wide range of agro-climatic conditions2. Here we report the construction of chromosome-scale sequence assemblies for the genotypes of 20 varieties of barley-comprising landraces, cultivars and a wild barley-that were selected as representatives of global barley diversity. We catalogued genomic presence/absence variants and explored the use of structural variants for quantitative genetic analysis through whole-genome shotgun sequencing of 300 gene bank accessions. We discovered abundant large inversion polymorphisms and analysed in detail two inversions that are frequently found in current elite barley germplasm; one is probably the product of mutation breeding and the other is tightly linked to a locus that is involved in the expansion of geographical range. This first-generation barley pan-genome makes previously hidden genetic variation accessible to genetic studies and breeding.


Subject(s)
Chromosomes, Plant/genetics , Genome, Plant/genetics , Hordeum/genetics , Internationality , Mutation , Plant Breeding , Chromosome Inversion/genetics , Chromosome Mapping , Genetic Loci/genetics , Genotype , Hordeum/classification , Polymorphism, Genetic/genetics , Reference Standards , Seed Bank , Sequence Inversion , Whole Genome Sequencing
8.
DNA Res ; 27(3)2020 Jun 01.
Article in English | MEDLINE | ID: mdl-32658273

ABSTRACT

Lotus japonicus is a herbaceous perennial legume that has been used extensively as a genetically tractable model system for deciphering the molecular genetics of symbiotic nitrogen fixation. Our aim is to improve the L. japonicus reference genome sequence, which has so far been based on Sanger and Illumina sequencing reads from the L. japonicus accession MG-20 and contained a large fraction of unanchored contigs. Here, we use long PacBio reads from L. japonicus Gifu combined with Hi-C data and new high-density genetic maps to generate a high-quality chromosome-scale reference genome assembly for L. japonicus. The assembly comprises 554 megabases of which 549 were assigned to six pseudomolecules that appear complete with telomeric repeats at their extremes and large centromeric regions with low gene density. The new L. japonicus Gifu reference genome and associated expression data represent valuable resources for legume functional and comparative genomics. Here, we provide a first example by showing that the symbiotic islands recently described in Medicago truncatula do not appear to be conserved in L. japonicus.


Subject(s)
Chromosomes , Gene Dosage , Lotus/genetics , Symbiosis/genetics , Gene Expression Regulation, Plant , Genes, Plant , Genomics , Medicago/genetics , Medicago truncatula/genetics , Nitrogen Fixation
9.
Nat Genet ; 52(9): 950-957, 2020 09.
Article in English | MEDLINE | ID: mdl-32719517

ABSTRACT

The diversity of maize (Zea mays) is the backbone of modern heterotic patterns and hybrid breeding. Historically, US farmers exploited this variability to establish today's highly productive Corn Belt inbred lines from blends of dent and flint germplasm pools. Here, we report de novo genome sequences of four European flint lines assembled to pseudomolecules with scaffold N50 ranging from 6.1 to 10.4 Mb. Comparative analyses with two US Corn Belt lines explains the pronounced differences between both germplasms. While overall syntenic order and consolidated gene annotations reveal only moderate pangenomic differences, whole-genome alignments delineating the core and dispensable genome, and the analysis of heterochromatic knobs and orthologous long terminal repeat retrotransposons unveil the dynamics of the maize genome. The high-quality genome sequences of the flint pool complement the maize pangenome and provide an important tool to study maize improvement at a genome scale and to enhance modern hybrid breeding.


Subject(s)
Genetic Variation/genetics , Genome, Plant/genetics , Zea mays/genetics , Breeding/methods , Chromosome Mapping , Genotype , Hybrid Vigor/genetics , Phenotype
10.
PLoS One ; 14(7): e0214703, 2019.
Article in English | MEDLINE | ID: mdl-31269026

ABSTRACT

Grapevine (Vitis vinifera) is one of the most important perennial crop plants in worldwide. Understanding of developmental processes like flowering, which impact quality and quantity of yield in this species is therefore of high interest. This gets even more important when considering some of the expected consequences of climate change. Earlier bud burst and flowering, for example, may result in yield loss due to spring frost. Berry ripening under higher temperatures will impact wine quality. Knowledge of interactions between a genotype or allele combination and the environment can be used for the breeding of genotypes that are better adapted to new climatic conditions. To this end, we have generated a list of more than 500 candidate genes that may play a role in the timing of flowering. The grapevine genome was exploited for flowering time control gene homologs on the basis of functional data from model organisms like A. thaliana. In a previous study, a mapping population derived from early flowering GF.GA-47-42 and late flowering 'Villard Blanc' was analyzed for flowering time QTLs. In a second step we have now established a workflow combining amplicon sequencing and bioinformatics to follow alleles of selected candidate genes in the F1 individuals and the parental genotypes. Allele combinations of these genes in individuals of the mapping population were correlated with early or late flowering phenotypes. Specific allele combinations of flowering time candidate genes within and outside of the QTL regions for flowering time on chromosome 1, 4, 14, 17, and 18 were found to be associated with an early flowering phenotype. In addition, expression of many of the flowering candidate genes was analyzed over consecutive stages of bud and inflorescence development indicating functional roles of these genes in the flowering control network.


Subject(s)
Flowers/genetics , Gene Expression Regulation, Plant , Vitis/genetics , Chromosome Mapping , Flowers/growth & development , Gene Expression Regulation, Developmental , Genes, Plant , Plant Breeding , Quantitative Trait Loci , Vitis/growth & development
11.
Cochlear Implants Int ; 15 Suppl 1: S75-7, 2014 May.
Article in English | MEDLINE | ID: mdl-24869451

ABSTRACT

OBJECTIVE: Is there a cochlear implant ear advantage for speech perception? Patients A total number of 68 cochlear implant recipients were evaluated retrospectively. They were 20 adults implanted in right ear, 20 matched adults implanted in left ear while 14 children implanted in right ear and 14 matched children implanted in left ear. METHODS: Behavioral responses & age based speech perception tests were evaluated at 6 months and 1 year post implantation. RESULTS: Adult showed no statistical difference in all tests at 6 months evaluation while 1 year evaluation showed significant better performance for right implanted group in monosyllabic discrimination test. Children showed statistical significant performance in monosyllabic identification and minimal pairs testes at 6 months evaluation; and in monosyllabic identification only at 1 year evaluation. CONCLUSION: The present data support that right ear implantation would fasten the development of auditory skills especially in young children, an issue to be considered in unilateral implantation.


Subject(s)
Auditory Cortex/abnormalities , Cochlear Implantation/methods , Cochlear Implants , Hearing Loss, Bilateral/surgery , Adolescent , Adult , Audiometry/methods , Child , Child, Preschool , Cochlear Implantation/adverse effects , Cohort Studies , Female , Follow-Up Studies , Hearing Loss, Bilateral/diagnosis , Hearing Tests , Humans , Middle Aged , Retrospective Studies , Risk Assessment , Severity of Illness Index , Statistics, Nonparametric , Treatment Outcome , Young Adult
12.
Hum Mutat ; 26(1): 60-1, 2005 Jul.
Article in English | MEDLINE | ID: mdl-15954104

ABSTRACT

Fifty to eighty percent of autosomal recessive deafness is due to mutations in the GJB2 gene encoding connexin 26. Among Caucasians, the c.35delG mutation in this gene accounts for up to 30 to 70% of all cases with early childhood deafness. In this study, we present the analysis of the GJB2 gene in 159 Egyptians from 111 families with non-syndromic mild to profound hearing impairment. An additional family with Vohwinkel syndrome, a combination of hearing impairment and palmoplantar keratoderma with constriction of the digits, was also included. We used direct sequencing analysis to detect all possible coding GJB2 variants in this population. The presence of the g.1777179_2085947del mutation (hereafter called del(GJB6-D13S1830)) was also investigated as it was shown to be the second most common mutation causing non-syndromic prelingual hearing impairment in Spain. Sequencing analysis of one randomly chosen individual per family revealed that the c.35delG mutation was present in 24 out of 222 chromosomes (10.8%), making it the most frequent mutation in the GJB2 gene in Egypt. Five other mutations were already described previously [p.Thr8Met, p.Val37Ile, p.Val153Ile, c.333_334delAA, c.1-3172G>A (commonly designated as IVS1+1G>A)]. This study also revealed three other novel gene variants resulting in amino acid substitutions (p.Phe142del, p.Asp117His, p.Ala148Pro). In contrast with most populations, the del(GJB6-D13S1830) mutation upstream of the GJB2 gene was not present in this Egyptian population. A dominant mutation at a highly conserved residue, p.Gly130Val, was found in the family with Vohwinkel syndrome.


Subject(s)
Connexins/genetics , Deafness/genetics , Adult , Case-Control Studies , Connexin 26 , Connexins/chemistry , DNA Mutational Analysis , Deafness/physiopathology , Egypt , Humans
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