Cloning of the Pleiotropic T Locus in Soybean and Two Recessive Alleles That Differentially Affect Structure and Expression of the Encoded Flavonoid 3′ Hydroxylase

Genetics ◽  
2003 ◽  
Vol 163 (1) ◽  
pp. 295-309
Author(s):  
Gracia Zabala ◽  
Lila Vodkin
Keyword(s):  
Frameshift Mutation ◽  
Flower Color ◽  
Flavonoid Pathway ◽  
Genetic Stock ◽  
Color Mutant ◽  
H Gene ◽  
Low Levels ◽  
Mutant Lines ◽  
Seed Coats ◽  
T Locus

Abstract Three loci (I, R, and T) control pigmentation of the seed coats in Glycine max and are genetically distinct from those controlling flower color. The T locus also controls color of the trichome hairs. We report the identification and isolation of a flavonoid 3′ hydroxylase gene from G. max (GmF3′H) and the linkage of this gene to the T locus. This GmF3′H gene was highly expressed in early stages of seed coat development and was expressed at very low levels or not at all in other tissues. Evidence that the GmF3′H gene is linked to the T locus came from the occurrence of multiple RFLPs in lines with varying alleles of the T locus, as well as in a population of plants segregating at that locus. GmF3′H genomic and cDNA sequence analysis of color mutant lines with varying t alleles revealed a frameshift mutation in one of the alleles. In another line derived from a mutable genetic stock, the abundance of the mRNAs for GmF3′H was dramatically reduced. Isolation of the GmF3′H gene and its identification as the T locus will enable investigation of the pleiotropic effects of the T locus on cell wall integrity and its involvement in the regulation of the multiple branches of the flavonoid pathway in soybean.

scholarly journals Spontaneous Feminization in a 46,XX Female Patient with Congenital Lipoid Adrenal Hyperplasia Due to a Homozygous Frameshift Mutation in the Steroidogenic Acute Regulatory Protein*

1997 ◽  
Vol 82 (5) ◽  
pp. 1511-1515 ◽  
Author(s):  
Himangshu S. Bose ◽  
Ora Hirsch Pescovitz ◽  
Walter L. Miller
Keyword(s):  
Frameshift Mutation ◽  
Regulatory Protein ◽  
Severe Form ◽  
Adrenal Hyperplasia ◽  
Hormone Production ◽  
Chain Cleavage ◽  
Cleavage Enzyme ◽  
Low Levels ◽  
Steroidogenic Cells ◽  
Steroidogenic Acute Regulatory

Abstract The most severe form of congenital adrenal hyperplasia (CAH) is lipoid CAH. It was once thought that this disease was due to mutations in the cholesterol side-chain cleavage enzyme system, thus eliminating the ability to convert cholesterol to pregnenolone, causing a complete absence of steroid hormone production. We recently showed that lipoid CAH is due to mutations in the steroidogenic acute regulatory (StAR) protein, thus preventing acutely stimulated adrenal and gonadal responses to tropic stimulation. However, this lesion may permit low levels of StAR-independent steroidogenesis to persist until the accumulation of intracellular lipid deposits destroys steroidogenic capacity. This model would predict that the steroidogenic cells of the ovaries of affected 46,XX females should remain undamaged until puberty, at which time low levels of StAR-independent estrogen biosynthesis should be detectable. We describe a 15.5-yr-old 46,XX female with a classic history of lipoid CAH who underwent spontaneous feminization and cyclical vaginal bleeding beginning at age 13. Genetic analysis of the patient and her parents showed that she was homozygous for the novel StAR frameshift mutation 261delT. This is the first adolescent female with lipoid CAH who has undergone spontaneous feminization and who has been analyzed genetically. Finding an inactive StAR gene in this patient confirms our two-hit model of the pathogenesis of lipoid CAH, in which loss of StAR activity initially preserves StAR-independent steroidogenesis, which is lost only after cells undergo chronic tropic stimulation and subsequent damage from accumulation of cholesterol esters.

scholarly journals Hibiscus syriacus 'Dasom', A New Flower-Color Mutant Variety Developed by Radiation Breeding

2015 ◽  
Vol 33 (2) ◽  
pp. 298-301 ◽  
Author(s):  
Sang Hoon Kim ◽  
Dong Sub Kim ◽  
Jin-Baek Kim ◽  
Bo-Keun Ha ◽  
Duk Man Lee ◽  
...  
Keyword(s):  
Flower Color ◽  
Color Mutant ◽  
Hibiscus Syriacus

A novel fibrinogen Bβ chain frameshift mutation in a patient with severe congenital hypofibrinogenaemia

2006 ◽  
Vol 95 (06) ◽  
pp. 931-935 ◽  
Author(s):  
Zhimin Zhai ◽  
Rongfu Zhou ◽  
Xuefeng Wang ◽  
Hongli Wang ◽  
Kaiyang Ding ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Fibrinogen Level ◽  
Stop Codon ◽  
Genetic Defect ◽  
Severe Bleeding ◽  
Thrombin Time ◽  
Clotting Time ◽  
Congenital Afibrinogenemia ◽  
Bleeding Episodes ◽  
Low Levels

SummaryCongenital afibrinogenemia and severe hypofibrinogenemia are severe bleeding disorders characterized by either undetectable or very low levels of fibrinogen in patients’ plasma and platelets. A majority of the reported cases are caused by mutations in the fibrinogen Aα chain. In this study, we identified a genetic defect in the fibrinogen Bβ-chain (FGB) underlying severe hypofibrinogenemia. The propositus frequently displayed bleeding episodes with a prolonged blood-clotting time (thrombin time > 180 s,activated partial thromboplastin time > 300 s, prothrombin time > 120 s) and had a very low level of plasma fibrinogen (1.7–1.8 mg/dl). His parents had a consanguineous marriage, and their functional and immunological fibrinogen was approximately half of the normal level.The platelet fibrinogen level of the propositus could not be detected by western blotting, and his platelet aggregation was severely impaired. DNA screening of the whole fibrinogen gene revealed a homozygous GGGG→GGG mutation at nucleotide 7969–7972 in his FGB gene. The propositus’ parents are both heterozygous for this mutation. This mutation contributes to Gly419→Val, and the 419–434 codons are frame shifted, and a stop codon is formed at codon 435.The predicted truncated Bβ-chain is 27 amino acids shorter than the normal Bβ-chain and a central β-strand in the globular βC domain is absent,which may lead to destabilization of the entire β-domain. To the best of our knowledge, this is the first report of such a mutation which is associated with severe hypofibrinogenemia.

Genetic and cytological analyses of three lethal ovule mutants in soybean (Glycine max; Leguminosae)

Genome ◽  
1997 ◽  
Vol 40 (3) ◽  
pp. 273-285 ◽  
Author(s):  
T. N. S. Pereira ◽  
H. Ilarslan ◽  
R. G. Palmer
Keyword(s):  
Pollen Viability ◽  
Embryo Sac ◽  
Female Parent ◽  
Flower Color ◽  
Gene Tagging ◽  
Normal Embryo ◽  
Ovule Abortion ◽  
Color Mutant ◽  
Partial Sterility ◽  
Allelism Tests

Soybean partially sterile mutants 2, 3, and 4 (PS-2, PS-3, and PS-4), recovered from a gene-tagging experiment, were studied to clarify their inheritance, linkage, allelism, and reproductive biology. The PS-2, PS-3, and PS-4 mutants were maintained as heterozygotes and upon self-pollination segregated l fertile: l partially-sterile. For inheritance and linkage tests, all three PS mutants were crossed to flower color mutant Harosoy-w4 and to chlorophyll-deficient (CD) mutants CD-1 and CD-5, also recovered from the tagging study. For allelism tests, reciprocal crosses were made among the three partially sterile mutants. Linkage results indicated that the gene for partial sterility in the PS-2, PS-3, and PS-4 mutants was not linked either to the w4 locus or to the genes for chlorophyll deficiency. Studies of pollen development, pollen viability, and pollen-tube germination indicated no difference between normal and partially sterile genotypes. Linkage and allelism tests indicated that the gene in the three partially sterile mutants was not transmitted through the female when they were used as a female parent. A study of megagametogenesis indicated that the ovules from partially sterile plants had normal embryo sac development. Ovule abortion was due to failure of fertilization.Key words: partially sterile, gene tagging, ovule abortion, soybean.

scholarly journals Cloning and Expression Analysis of Flavonoid 3′, 5′-Hydroxylase Gene from Brunfelsia acuminata

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 1086
Author(s):  
Min Li ◽  
Yuting Cao ◽  
Biswojit Debnath ◽  
Hongjuan Yang ◽  
Xiaohua Kui ◽  
...  
Keyword(s):  
Petunia Hybrida ◽  
Molecular Breeding ◽  
Flower Color ◽  
Cloning And Expression ◽  
Pcr Analysis ◽  
Blue Flower ◽  
Rt Pcr ◽  
Reading Frame ◽  
Real Time Quantitative Pcr ◽  
H Gene

The full-length cDNA sequence of F3′5′H gene from the Brunfelsia acuminata was obtained by RT-PCR and RACE, whose GenBank accession number is JQ678765. The sequence contains a 1521 bp open reading frame, 120 bp 5′UTR and 61 bp 3′UTR, encoding a total of 506 amino acids. The molecular mass of the predicted protein is 56.47 kDa with an estimated pI of 8.78, respectively. Sequence alignment showed that the amino acid sequence of F3′5′H was 91%, 87% and 84% with that of Petunia × hybrida, Nierembergia sp., Solanum tuberosum, respectively. Real-time quantitative PCR analysis showed that the expression of F3′5′H gene was different in petals of different days, which was the highest expression level on day 0 and significantly higher than other days. The results indicated that F3′5′H might play key role in flower color regulation and provide a theoretical reference for blue flower molecular breeding.

scholarly journals Whole-genome resequencing of Osmanthus fragrans provides insights into flower color evolution

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Hongguo Chen ◽  
Xiangling Zeng ◽  
Jie Yang ◽  
Xuan Cai ◽  
Yumin Shi ◽  
...  
Keyword(s):  
Genome Wide Association Study ◽  
Frameshift Mutation ◽  
Flower Color ◽  
Carotenoid Cleavage Dioxygenase ◽  
Coding Region ◽  
Osmanthus Fragrans ◽  
Floral Color ◽  
Regional Cluster ◽  
Population Structure Analysis ◽  
A Genome

AbstractOsmanthus fragrans is a well-known ornamental plant that has been domesticated in China for 2500 years. More than 160 cultivars have been found during this long period of domestication, and they have subsequently been divided into four cultivar groups, including the Yingui, Jingui, Dangui, and Sijigui groups. These groups provide a set of materials to study genetic evolution and variability. Here, we constructed a reference genome of O. fragrans ‘Liuyejingui’ in the Jingui group and investigated its floral color traits and domestication history by resequencing a total of 122 samples, including 119 O. fragrans accessions and three other Osmanthus species, at an average sequencing depth of 15×. The population structure analysis showed that these 119 accessions formed an apparent regional cluster. The results of linkage disequilibrium (LD) decay analysis suggested that varieties with orange/red flower color in the Dangui group had undergone more artificial directional selection; these varieties had the highest LD values among the four groups, followed by the Sijigui, Jingui, and Yingui groups. Through a genome-wide association study, we further identified significant quantitative trait loci and genomic regions containing several genes, such as ethylene-responsive transcription factor 2 and Arabidopsis pseudoresponse regulator 2, that are positively associated with petal color. Moreover, we found a frameshift mutation with a 34-bp deletion in the first coding region of the carotenoid cleavage dioxygenase 4 gene. This frameshift mutation existed in at least one site on both alleles in all varieties of the Dangui group. The results from this study shed light on the genetic basis of domestication in woody plants, such as O. fragrans.

scholarly journals Integrated metabolome and transcriptome analysis of the anthocyanin biosynthetic pathway in relation to color mutation in miniature roses

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Jiaojiao Lu ◽  
Qing Zhang ◽  
Lixin Lang ◽  
Chuang Jiang ◽  
Xiaofeng Wang ◽  
...  
Keyword(s):  
Transcriptome Analysis ◽  
Biosynthetic Pathway ◽  
Ornamental Plants ◽  
Syringic Acid ◽  
Flavonoid Pathway ◽  
Color Mutant ◽  
Anthocyanin Biosynthetic Pathway ◽  
Transparent Testa ◽  
Color Mutation ◽  
Mutant Flower

Abstract Background Roses are famous ornamental plants worldwide. Floral coloration is one of the most prominent traits in roses and is mainly regulated through the anthocyanin biosynthetic pathway. In this study, we investigated the key genes and metabolites of the anthocyanin biosynthetic pathway involved in color mutation in miniature roses. A comparative metabolome and transcriptome analysis was carried out on the Neptune King rose and its color mutant, Queen rose, at the blooming stage. Neptune King rose has light pink colored petals while Queen rose has deep pink colored petals. Result A total of 190 flavonoid-related metabolites and 38,551 unique genes were identified. The contents of 45 flavonoid-related metabolites, and the expression of 15 genes participating in the flavonoid pathway, varied significantly between the two cultivars. Seven anthocyanins (cyanidin 3-O-glucosyl-malonylglucoside, cyanidin O-syringic acid, cyanidin 3-O-rutinoside, cyanidin 3-O-galactoside, cyanidin 3-O-glucoside, peonidin 3-O-glucoside chloride, and pelargonidin 3-O-glucoside) were found to be the major metabolites, with higher abundance in the Queen rose. Thirteen anthocyanin biosynthetic related genes showed an upregulation trend in the mutant flower, which may favor the higher levels of anthocyanins in the mutant. Besides, eight TRANSPARENT TESTA 12 genes were found upregulated in Queen rose, probably contributing to a high vacuolar sequestration of anthocyanins. Thirty transcription factors, including two MYB and one bHLH, were differentially expressed between the two cultivars. Conclusions This study provides important insights into major genes and metabolites of the anthocyanin biosynthetic pathway modulating flower coloration in miniature rose. The results will be conducive for manipulating the anthocyanin pathways in order to engineer novel miniature rose cultivars with specific colors.

scholarly journals Erratum: Engineering of flower color in forsythia by expression of two independently-transformed dihydroflavonol 4-reductase and anthocyanidin synthase genes of flavonoid pathway

2004 ◽  
Vol 13 (2) ◽  
pp. 209-210
Author(s):  
Carlo Rosati ◽  
Philippe Simoneau ◽  
Dieter Treutter ◽  
Pascal Poupard ◽  
Yves Cadot ◽  
...  
Keyword(s):  
Flower Color ◽  
Flavonoid Pathway ◽  
Anthocyanidin Synthase

scholarly journals A novel transcription factor CmMYB012 inhibits flavone and anthocyanin biosynthesis in response to high temperatures in chrysanthemum

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Li-Jie Zhou ◽  
Zhiqiang Geng ◽  
Yuxi Wang ◽  
Yiguang Wang ◽  
Shenhui Liu ◽  
...  
Keyword(s):  
Transcription Factor ◽  
High Temperatures ◽  
Anthocyanin Biosynthesis ◽  
Flower Color ◽  
Negative Influence ◽  
Myb Transcription Factor ◽  
Plant Fitness ◽  
Flavonoid Pathway ◽  
Gene Encoding ◽  
Color Formation

AbstractFlavones are among the major colorless pigments synthesized through branches of the flavonoid pathway in plants. However, due to the absence of a gene encoding flavone synthase (FNS) in the model plant Arabidopsis thaliana species, the regulatory mechanism of FNS-catalyzed flavone biosynthesis has rarely been studied in plants. Here, it was found that flavones play a predominant role in the elimination of excess reactive oxygen species (ROS) at high temperatures in colorless plant organs. A novel atypical subgroup 7 (SG7) R2R3-MYB transcription factor, CmMYB012, was found to be induced in response to prolonged high temperatures and to inhibit flavone biosynthesis by directly regulating CmFNS. Moreover, CmMYB012 was also found to inhibit anthocyanin biosynthesis by suppressing the expression of CmCHS, CmDFR, CmANS, and CmUFGT. CmMYB012 overexpression exerted a negative influence on plant fitness and pink flower color formation, while CmMYB012 suppression had the opposite effect in response to high temperatures. Our findings provide new insights into the mechanisms by which high temperatures regulate the metabolism of flavones and anthocyanins to affect plant fitness and flower color formation.

scholarly journals Development of new cowpea (Vigna unguiculata) mutant genotypes, analysis of their agromorphological variation, genetic diversity and Population structure

2020 ◽  
Author(s):  
Made Diouf ◽  
Sara Diallo ◽  
François Abaye Badiane ◽  
Oumar Diack ◽  
Diaga Diouf
Keyword(s):  
Genetic Diversity ◽  
Coat Color ◽  
Flower Color ◽  
Issr Markers ◽  
Yield Component ◽  
Human Consumption ◽  
Component Traits ◽  
Cowpea Varieties ◽  
Yield Component Traits ◽  
Mutant Lines

AbstractCowpea is one of the most important legume grain in the SubSaharian region of Africa used for human consumption and animal feeding but its production is hampered by biotic and abiotic constraints raising the need to broaden its genetic basis. For this purpose, the seeds of two cowpea varieties Melakh and Yacine were respectively irradiated with 300 and 340 Gy. The developed mutant populations were agromorphologically characterized from M5 to M7 while the genetic diversity of the last were evaluated using 13 ISSR markers. Based on agromorphological characterization, variation of flower color, pod length, seed coat color and seed weight with respectively 78.01, 68.29, 94.48 and 57.58% heritability were recorded in the mutant lines. PCA analyses allowed to identify the elite mutants based on their agromorphological traits while Pearson’s correlation results revealed a positive correlation between yield component traits. Three subpopulations were identified through STRUCTURE analyses but assignment of the individuals in each group was improved using DAPC. Analysis of Molecular Variance revealed that the majority (85%) of the variance rather existed within group than among (15%) group. Finally, our study allowed to select new promising mutant genotypes which could be tested for multi local trials to evaluate their agronomic performance.

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