Origination and selection of ABCDE and AGL6 subfamily MADS-box genes in gymnosperms and angiosperms

BACKGROUND: The morphological diversity of flower organs is closely related to functional divergence within the MADS-box gene family. Bryophytes and seedless vascular plants have MADS-box genes but do not have ABCDE or AGAMOUS-LIKE6 (AGL6) genes. ABCDE and AGL6 genes belong to the subgroup of MADS-box genes. Previous works suggest that the B gene was the first ABCDE and AGL6 genes to emerge in plant but there are no mentions about the probable origin time of ACDE and AGL6 genes. Here, we collected ABCDE and AGL6 gene 381 protein sequences and 361 coding sequences from gymnosperms and angiosperms and reconstructed a complete Bayesian phylogeny of these genes. In this study, we want to clarify the probable origin time of ABCDE and AGL6 genes is a great help for understanding the role of the formation of the flower, which can decipher the forming order of MADS-box genes in the future. RESULTS: These genes appeared to have been under purifying selection and their evolutionary rates are not significantly different from each other. Using the Bayesian evolutionary analysis by sampling trees (BEAST) tool, we estimated that: the mutation rate of the ABCDE and AGL6 genes was 2.617 × 10-3 substitutions/site/million years, and that B genes originated 339 million years ago (MYA), CD genes originated 322 MYA, and A genes shared the most recent common ancestor with E/AGL6 296 MYA, respectively. CONCLUSIONS: The phylogeny of ABCDE and AGL6 genes subfamilies differed. The APETALA1 (AP1 or A gene) subfamily clustered into one group. The APETALA3/PISTILLATA (AP3/PI or B genes) subfamily clustered into two groups: the AP3 and PI clades. The AGAMOUS/SHATTERPROOF/SEEDSTICK (AG/SHP/STK or CD genes) subfamily clustered into a single group. The SEPALLATA (SEP or E gene) subfamily in angiosperms clustered into two groups: the SEP1/2/4 and SEP3 clades. The AGL6 subfamily clustered into a single group. Moreover, ABCDE and AGL6 genes appeared in the following order: AP3/PI → AG/SHP/STK → AGL6/SEP/AP1. In this study, we collected candidate sequences from gymnosperms and angiosperms. This study highlights important events in the evolutionary history of the ABCDE and AGL6 gene families and clarifies their evolutionary path.

Screening of reference genes in Lonicera macranthoides and spatio-temporal expression analysis of LmAGL15 in Mads-box family / 中草药

Objective: To screen the reference genes of Lonicera macranthoides for gene expression analysis and to study the spatio-temporal expression characteristics of LmAGL15 which was a member of Mads-Box family. Methods: In this study, 18 S rRNA, Ubiquilin, Actin and Efl-β of L. macranthoides were cloned and the stabilities of the four housekeeping genes were evaluated in different positions (leaves, stems, and buds) and different periods of bud development. In addition, the spatio-temporal expression of LmAGL15 gene was analyzed. Results: 18 S rRNA was the most suitable reference gene for spatio-temporal expression analysis in L. macranthoides; The relative expression of LmAGL15 was low in leaves and stems, and that in buds was higher. Conclusion: 18 S rRNA is the most suitable reference gene in L. macranthoides. The relative expression of LmAGL15 changes significantly in leaves, stems, and buds.

Prenatal Diagnosis of Glycogen Storage Disorder Type III.

Among glycogen storage disorders, deficiency of glycogen debranching enzyme causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure in liver and muscle. This report describes a novel mutation in a family with glycogen storage disorder Type III in index child used in prenatal diagnosis in the fetus in second trimester.

The Effects of Acer ginnala Leaves Extraction on the Atopic Dermatitis-like Skin Lesions in NC/Nga Mice / 대한피부과학회지

BACKGROUND: Atopic Dermatitis (AD) is a chronic relapsing inflammatory skin disease that is usually observed in patients with an individual or familial history of atopic diseases, and AD is precipitated by environmental factors, including mite antigens. AD is known to be generated by an imbalance of both Th1 and Th2 cytokines. However, the exact etiology of AD is unclear. The leaves of Acer ginnala (AGL) have been demonstrated to have an anti-oxidant effect. OBJECTIVE: We wanted to investigate the effect of AGL on AD-like skin lesions and the other factors related to an immune response. METHODS: The AGL was applied to the AD-like skin lesions on the backs of NC/Nga mice. The efficacy of AGL in the NC/Nga mice was evaluated by the changes of severity of the skin lesions (a modified SCORAD). Blood was collected from the retro-orbital area and the abdominal vena cava. The levels of eosinophils, immunoglobulin (Ig) E and Th2-related cytokines in the blood were measured. RESULTS: The topical application of AGL suppressed the development of AD-like skin lesions. The percent of blood eosinophils was decreased after treatment with AGL. The serum IgE and Th2-related cytokine levels were decreased after treatment with AGL compared with those treated with base cream (the vehicle treated AD group). The IL-4, IL-5 and IL-13 levels were lower than those of the vehicle treated AD group. CONCLUSION: The findings suggest that AGL may exert an inhibitory effect on atopic dermatitis.

An adult case of glycogen storage disease type IIIa / 대한간학회지

Glycogen storage disease type III (GSD III) is a very rare disorder caused by a deficiency in the activities of glycogen debranching enzymes (amylo-1-6-glucosidase and 4-alpha-glucanotransferase). GSD III is characterized by the accumulation of abnormal glycogen in the liver and skeletal muscle. The primary clinical manifestations are hepatomegaly, fasting hypoglycemia, and hyperlipidemia in infants. We report a rare case of GSD III in an adult. A 52-year-old woman presented to our clinic due to dyspnea on exertion, severe general weakness, and hepatomegaly. Hypertrophic cardiomyopathy was diagnosed based on echocardiogram findings. The microscopic findings of liver and skeletal muscle biopsies were consistent with the diagnosis of GSD. DNA analysis prompted by clinical and pathologic findings led to a definitive diagnosis of GSD IIIa. Diet therapy with cornstarch was started, and the patient was followed closely. This represents the first reported case of GSD IIIa diagnosed in an adult in Korea.

AGL gene mutation and clinical features in Korean patients with glycogen storage disease type III

PURPOSE: Glycogen storage disease type III (GSD-III) is a rare autosomal recessive disorder of glycogen metabolism. The affected enzyme, amylo-1,6-glucosidase, 4-alpha-glucanotransferase (AGL, glycogen debranching enzyme), is responsible for the debranching of the glycogen molecule during catabolism. The disease shows clinical and biochemical heterogeneity, reflecting genotype-phenotype heterogeneity among different patients. In this study, we aim at analyzing mutations of the AGL gene in three unrelated Korean GSD-III patients, and characterizing their clinical and laboratory findings. METHODS: We characterized the clinical features of three unrelated Korean GSD-III patients by biochemical, histological and imaging studies. The 35 exons and part of exon-intron boundaries of AGL were analyzed by direct sequencing using genomic DNA extracted from the peripheral leukocytes of patients. RESULTS: Diverse clinical features were observed in these patients including hepatomegaly (all patients), seizures (patient 2), growth failure (patients 1 and 2), hyperlipidemia (patients 1 and 3), raised transaminase and creatine kinase concentrations (all patients), and mild cardiomyopathy (patient 2). Liver transplantation was performed in patient 2 due to progressive hepatic fibrosis. Administration of uncooked corn starch maintained normoglycemia and improved biochemical and growth profiles. DNA sequence analysis revealed mutations in 5 out of 6 alleles. Patient 1 was a compound heterozygote of c.1282 G>A (p.R428K) and c.1306delA (p.S603PfsX6), patient 2 had c.1510_1511insT (p.Y504LfsX10), and patient 3 had c.3416 T>C (p.L1139P) and c.1735+1 G>T (p.Y538_R578delfsX4) mutations. Apart from the p.R428K mutation, the 4 other substitutions identified were novel. CONCLUSION: GSD-III patients display variable phenotypic characteristics resembling those of GSD-Ia. Molecular defects in the AGL gene of Korean GSD-III patients are genetically heterogeneous.