scholarly journals The ‘Tommy Atkins’ mango genome reveals candidate genes for fruit quality

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ian S. E. Bally ◽  
◽  
Aureliano Bombarely ◽  
Alan H. Chambers ◽  
Yuval Cohen ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Fruit Quality ◽  
De Novo ◽  
Mapping Population ◽  
Mangifera Indica ◽  
Consensus Sequence ◽  
Fruit Size ◽  
Hybrid Population ◽  
High Molecular Weight Dna ◽  
Tropical Fruit

Abstract Background Mango, Mangifera indica L., an important tropical fruit crop, is grown for its sweet and aromatic fruits. Past improvement of this species has predominantly relied on chance seedlings derived from over 1000 cultivars in the Indian sub-continent with a large variation for fruit size, yield, biotic and abiotic stress resistance, and fruit quality among other traits. Historically, mango has been an orphan crop with very limited molecular information. Only recently have molecular and genomics-based analyses enabled the creation of linkage maps, transcriptomes, and diversity analysis of large collections. Additionally, the combined analysis of genomic and phenotypic information is poised to improve mango breeding efficiency. Results This study sequenced, de novo assembled, analyzed, and annotated the genome of the monoembryonic mango cultivar ‘Tommy Atkins’. The draft genome sequence was generated using NRGene de-novo Magic on high molecular weight DNA of ‘Tommy Atkins’, supplemented by 10X Genomics long read sequencing to improve the initial assembly. A hybrid population between ‘Tommy Atkins’ x ‘Kensington Pride’ was used to generate phased haplotype chromosomes and a highly resolved phased SNP map. The final ‘Tommy Atkins’ genome assembly was a consensus sequence that included 20 pseudomolecules representing the 20 chromosomes of mango and included ~ 86% of the ~ 439 Mb haploid mango genome. Skim sequencing identified ~ 3.3 M SNPs using the ‘Tommy Atkins’ x ‘Kensington Pride’ mapping population. Repeat masking identified 26,616 genes with a median length of 3348 bp. A whole genome duplication analysis revealed an ancestral 65 MYA polyploidization event shared with Anacardium occidentale. Two regions, one on LG4 and one on LG7 containing 28 candidate genes, were associated with the commercially important fruit size characteristic in the mapping population. Conclusions The availability of the complete ‘Tommy Atkins’ mango genome will aid global initiatives to study mango genetics.

scholarly journals MGDb: An analyzed database and a genomic resource of mango (Mangifera Indica L.) cultivars for mango research

2018 ◽  
Author(s):  
Tayyaba Qamar-ul-Islam ◽  
M. Ahmed Khan ◽  
Rabia Faizan ◽  
Uzma Mahmood
Keyword(s):  
De Novo ◽  
Sequence Data ◽  
Mangifera Indica ◽  
Flat File ◽  
Web Based ◽  
Tropical Fruit ◽  
Nucleotide Sequence Data ◽  
Homologous Genes ◽  
De Novo Sequence Assembly ◽  
Genomic Resource

AbstractMango is one of the famous and fifth most important subtropical/tropical fruit crops worldwide with the production centered in India and South-East Asia. Recently, there has been a worldwide interest in mango genomics to produce tools for Marker Assisted Selection and trait association. There are no web-based analyzed genomic resources available for mango particularly. Hence a complete mango genomic resource was required for improvement in research and management of mango germplasm. In this project, we have done comparative transcriptome analysis of four mango cultivars i.e. cv. Langra, cv. Zill, cv. Shelly and cv. Kent from Pakistan, China, Israel, and Mexico respectively. The raw data is obtained through De-novo sequence assembly which generated 30,953-85,036 unigenes from RNA-Seq datasets of mango cultivars. The project is aimed to provide the scientific community and general public a mango genomic resource and allow the user to examine their data against our analyzed mango genome databases of four cultivars (cv. Langra, cv. Zill, cv. Shelly and cv. Kent). A mango web genomic resource MGdb, is based on 3-tier architecture, developed using Python, flat file database, and JavaScript. It contains the information of predicted genes of the whole genome, the unigenes annotated by homologous genes in other species, and GO (Gene Ontology) terms which provide a glimpse of the traits in which they are involved. This web genomic resource can be of immense use in the assessment of the research, development of the medicines, understanding genetics and provides useful bioinformatics solution for analysis of nucleotide sequence data. We report here world’s first web-based genomic resource particularly of mango for genetic improvement and management of mango genome.

scholarly journals Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
Na Zhu ◽  
◽  
Emilia M. Swietlik ◽  
Carrie L. Welch ◽  
Michael W. Pauciulo ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Candidate Genes ◽  
Rare Variant ◽  
De Novo ◽  
Risk Genes ◽  
International Consortium ◽  
Rare Variant Analysis ◽  
New Genes ◽  
Pulmonary Arterial ◽  
Variant Analysis

Abstract Background Pulmonary arterial hypertension (PAH) is a lethal vasculopathy characterized by pathogenic remodeling of pulmonary arterioles leading to increased pulmonary pressures, right ventricular hypertrophy, and heart failure. PAH can be associated with other diseases (APAH: connective tissue diseases, congenital heart disease, and others) but often the etiology is idiopathic (IPAH). Mutations in bone morphogenetic protein receptor 2 (BMPR2) are the cause of most heritable cases but the vast majority of other cases are genetically undefined. Methods To identify new risk genes, we utilized an international consortium of 4241 PAH cases with exome or genome sequencing data from the National Biological Sample and Data Repository for PAH, Columbia University Irving Medical Center, and the UK NIHR BioResource – Rare Diseases Study. The strength of this combined cohort is a doubling of the number of IPAH cases compared to either national cohort alone. We identified protein-coding variants and performed rare variant association analyses in unrelated participants of European ancestry, including 1647 IPAH cases and 18,819 controls. We also analyzed de novo variants in 124 pediatric trios enriched for IPAH and APAH-CHD. Results Seven genes with rare deleterious variants were associated with IPAH with false discovery rate smaller than 0.1: three known genes (BMPR2, GDF2, and TBX4), two recently identified candidate genes (SOX17, KDR), and two new candidate genes (fibulin 2, FBLN2; platelet-derived growth factor D, PDGFD). The new genes were identified based solely on rare deleterious missense variants, a variant type that could not be adequately assessed in either cohort alone. The candidate genes exhibit expression patterns in lung and heart similar to that of known PAH risk genes, and most variants occur in conserved protein domains. For pediatric PAH, predicted deleterious de novo variants exhibited a significant burden compared to the background mutation rate (2.45×, p = 2.5e−5). At least eight novel pediatric candidate genes carrying de novo variants have plausible roles in lung/heart development. Conclusions Rare variant analysis of a large international consortium identified two new candidate genes—FBLN2 and PDGFD. The new genes have known functions in vasculogenesis and remodeling. Trio analysis predicted that ~ 15% of pediatric IPAH may be explained by de novo variants.

scholarly journals Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders

2021 ◽  
Author(s):  
Yi Zhang ◽  
Tao Wang ◽  
Yan Wang ◽  
Kun Xia ◽  
Jinchen Li ◽  
...  
Keyword(s):  
Candidate Genes ◽  
Neurodevelopmental Disorders ◽  
De Novo ◽  
Genetic Data ◽  
Chinese Patients ◽  
The Novel ◽  
Mutational Spectrum ◽  
Functional Variants ◽  
Public Data ◽  
Chromosomal Genes

AbstractNeurodevelopmental disorders (NDDs) are a group of diseases characterized by high heterogeneity and frequently co-occurring symptoms. The mutational spectrum in patients with NDDs is largely incomplete. Here, we sequenced 547 genes from 1102 patients with NDDs and validated 1271 potential functional variants, including 108 de novo variants (DNVs) in 78 autosomal genes and seven inherited hemizygous variants in six X chromosomal genes. Notably, 36 of these 78 genes are the first to be reported in Chinese patients with NDDs. By integrating our genetic data with public data, we prioritized 212 NDD candidate genes with FDR < 0.1, including 17 novel genes. The novel candidate genes interacted or were co-expressed with known candidate genes, forming a functional network involved in known pathways. We highlighted MSL2, which carried two de novo protein-truncating variants (p.L192Vfs*3 and p.S486Ifs*11) and was frequently connected with known candidate genes. This study provides the mutational spectrum of NDDs in China and prioritizes 212 NDD candidate genes for further functional validation and genetic counseling.

scholarly journals Identification of target genes and a unique cis element regulated by IRF-8 in developing macrophages

Blood ◽  
2005 ◽  
Vol 106 (6) ◽  
pp. 1938-1947 ◽  
Author(s):  
Tomohiko Tamura ◽  
Pratima Thotakura ◽  
Tetsuya S. Tanaka ◽  
Minoru S. H. Ko ◽  
Keiko Ozato
Keyword(s):  
Transcription Factor ◽  
Cystatin C ◽  
Target Genes ◽  
De Novo ◽  
Consensus Sequence ◽  
Binding Motif ◽  
Microarray Gene Expression ◽  
Cathepsin C ◽  
Cis Element

Abstract Interferon regulatory factor-8 (IRF-8)/interferon consensus sequence–binding protein (ICSBP) is a transcription factor that controls myeloid-cell development. Microarray gene expression analysis of Irf-8-/- myeloid progenitor cells expressing an IRF-8/estrogen receptor chimera (which differentiate into macrophages after addition of estradiol) was used to identify 69 genes altered by IRF-8 during early differentiation (62 up-regulated and 7 down-regulated). Among them, 4 lysosomal/endosomal enzyme-related genes (cystatin C, cathepsin C, lysozyme, and prosaposin) did not require de novo protein synthesis for induction, suggesting that they were direct targets of IRF-8. We developed a reporter assay system employing a self-inactivating retrovirus and analyzed the cystatin C and cathepsin C promoters. We found that a unique cis element mediates IRF-8–induced activation of both promoters. Similar elements were also found in other IRF-8 target genes with a consensus sequence (GAAANN[N]GGAA) comprising a core IRF-binding motif and an Ets-binding motif; this sequence is similar but distinct from the previously reported Ets/IRF composite element. Chromatin immunoprecipitation assays demonstrated that IRF-8 and the PU.1 Ets transcription factor bind to this element in vivo. Collectively, these data indicate that IRF-8 stimulates transcription of target genes through a novel cis element to specify macrophage differentiation.

Whole exome sequencing identifies FOXL2, FOXA2 and FOXA3 as candidate genes for monogenic congenital anomalies of the kidneys and urinary tract

2021 ◽  
Author(s):  
Bixia Zheng ◽  
Steve Seltzsam ◽  
Chunyan Wang ◽  
Luca Schierbaum ◽  
Sophia Schneider ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Exome Sequencing ◽  
Candidate Genes ◽  
Whole Exome Sequencing ◽  
Congenital Anomalies ◽  
De Novo ◽  
Horseshoe Kidney ◽  
Missense Variant ◽  
Whole Exome ◽  
Fox Genes

Abstract Background Congenital anomalies of the kidneys and urinary tract (CAKUT) constitute the most common cause of chronic kidney disease in the first three decades of life. Variants in four Forkhead box (FOX) transcription factors have been associated with CAKUT. We hypothesized that other FOX genes, if highly expressed in developing kidney, may also represent monogenic causes of CAKUT. Methods We here performed whole exome sequencing (WES) in 541 families with CAKUT and generated 4 lists of CAKUT candidate genes: A) 36 FOX genes showing high expression during renal development, B) 4 FOX genes known to cause CAKUT to validate list A; C) 80 genes that we identified as unique potential novel CAKUT candidate genes when performing WES in 541 CAKUT families, and D) 175 genes identified from WES as multiple potential novel CAKUT candidate genes. Results To prioritize potential novel CAKUT candidates in FOX gene family, we overlapped 36 FOX genes (list A) with list C and D of WES-derived CAKUT candidates. Intersection with list C, identified a de novo FOXL2 in-frame deletion in a patient with eyelid abnormalities and ureteropelvic junction obstruction, and a homozygous FOXA2 missense variant in a patient with horseshoe kidney. Intersection with list D, identified a heterozygous FOXA3 missense variant in a CAKUT family with multiple affected individuals. Conclusion We hereby identified FOXL2, FOXA2 and FOXA3 as novel monogenic candidate genes of CAKUT, supporting the utility of a paralog-based approach to discover mutated genes associated with human disease.

scholarly journals The impact of location, row direction, plant density and rootstock on the sunburn damage of apple cultivars

2005 ◽  
Vol 11 (1) ◽  
Author(s):  
J. Racskó ◽  
J. Nagy ◽  
Z. Szabó ◽  
M. Major ◽  
J. Nyéki
Keyword(s):  
Solar Radiation ◽  
Leaf Area ◽  
Fruit Quality ◽  
Plant Density ◽  
Fruit Size ◽  
Quality Parameters ◽  
Apple Seedling ◽  
Apple Cultivars ◽  
The Impact ◽  
Crab Apple

The effect of row direction (N-S, E-W), plant density (conventional and intensive) and rootstock (M9, MM106 and crab apple) on the sensitivity of 41 apple cultivars to sunburn injury was studied at 6 locations (Derecske, Kálmánáaza, Nagykutas, Nagylapos, Siófok, Tornyospálca). During the observations the cultivars had rootstock-specific properties in respect of sunburn-susceptibility. Accordingly, the injury was decreased in the order: M9, MM106 and seedling rootstocks. The differences in sensitivity depend on the canopy of trees, caused finally by the growing vigour of rootstocks. Accordingly, the highest value of sunburn injury was observed on M9 rootstock, because this rootstock has a dwarfing effect upon the scion cultivars. Thus, vegetative area of these trees grow very slowly and the foliage is not enough compact to protect the fruit from solar radiation. The size and density of the foliage increased in the order: M9, MM 106 and crab apple seedling as rootstock. Moreover, relationships were demonstrated between the diameter of upper part of the crown, the leaf area, the number of fruits per tree and the injury of sunburn. Authors categorized the cultivars in respect of values of sunburn incidence: 1. „Not sensitive", II. „Moderately sensitive" and HI. „Strongly sensitive" categories were constituted. Generally, Topaz and Gala cultivars showed low damage (or were free from symptoms), in contrast to this, Golden mutants suffered relatively much. The most sensitive cultivar was Jonica on all the three rootstocks. We searched for relationship between the fruit quality parameters and the frequency of sunburn. Significant correlation was found in the cases of fruit size and the extent of cover-colour. The latter is interpreted with the fact that the best coloured fruits are found on the periphery of crown as a consequence of more intense irradiation.

scholarly journals CITRUS FRUIT QUALITY CLASSIFICATION BASED ON SIZE USING DIGITAL IMAGE PROCESSING

2019 ◽  
Vol 48 (5) ◽  
pp. 95-101
Author(s):  
Ulzii-Orshikh Dorj ◽  
Uranbaigal Dejidbal ◽  
Hongseok Chae ◽  
Lkhagvadorj Batsambuu ◽  
Altanchimeg Badarch ◽  
...  
Keyword(s):  
Fruit Quality ◽  
Fruit Size ◽  
Citrus Fruit ◽  
Citrus Fruits ◽  
Single Tree ◽  
Quality Classification ◽  
Comparative Results ◽  
Vision Algorithm ◽  
Tree Fruits ◽  
Actual Size

A new computer vision algorithm for citrus fruit quality classification based on the size of a single tree fruits was developed in this study. The image properties of area, perimeter, and diameter for the citrus fruits were measured by pixels. In order to estimate citrus fruit size in a realistic manner, the ratios of diameter, perimeter and area in pixel values in relation to the actual size of one fruit were determined. The total of 1860 citrus fruits were grouped based on diameter, perimeter, and area in pixels. The results of the grouping of citrus fruits by diameter, perimeter and area were compared with the results of the survey research into citrus fruit size as conducted by the Jeju Citrus Commission. Comparative results reveal that the image of the citrus fruit diameter in pixels demonstrate a more accurate size than the other two pixel values, i.e. perimeter and area.

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