Background Red maple ( Acer rubrum L.) is one of the most common and widespread trees with colorful leaves. We found a mutant with red, yellow, and green leaf phenotypes in different branches, which provided ideal materials with the same genetic relationship, and little interference from the environment, for the study of complex metabolic networks that underly variations in the coloration of leaves. We applied a combination of NGS and SMRT sequencing to various red maple tissues. Results A total of 125,448 unigenes were obtained, of which 46 and 69 were thought to be related to the synthesis of anthocyanins and carotenoids, respectively. In addition, 88 unigenes were presumed to be involved in the chlorophyll metabolic pathway. Based on a comprehensive analysis of the pigment gene expression network, the mechanisms of leaf color were investigated. The massive accumulation of Cy led to its higher content and proportion than other pigments, which caused the redness of leaves. Yellow coloration was the result of the complete decomposition of chlorophyll pigments, the unmasking of carotenoid pigments, and a slight accumulation of Cy. Conclusions This study provides a systematic analysis of color variations in the red maple. Moreover, mass sequence data obtained by deep sequencing will provide references for the controlled breeding of red maple. Electronic supplementary material The online version of this article (10.1186/s12870-019-1850-7) contains supplementary material, which is available to authorized users.
Orbital cavernous hemangioma is the most common primary tumor in the orbit. With the development of histopathology, it has been confirmed that cavernous hemangioma is not a real tumor, but a special type of vascular malformation. Cavernous hemangioma malformation(CVM) is a more appropriate way to name it. At present, surgical resection is the main treatment for CVMs. The prognosis of the surgery mainly depends on the location and the size of the lesion as well as its relationship with the optic nerve. Therefore, effective imaging information is of great importance. This paper analyzes the radiological imaging characteristics and the advantages and disadvantages between them, including ultrasound, CT, MRI, and SPECT/CT imaging of CVMs, hoping to help improve our understanding of CVMs.
Background: The purpose of this study is to determine the mutation frequencies of key driver genes in uveal melanoma (UM) in Chinese patients and to detect associations between metastasis and the mutation of these genes. Method: A total of 85 patients with UM were enrolled in this study, including 18 patients with metastasis and 67 without metastasis. Sanger sequencing covering the mutational hotspot regions of the G protein subunit alpha Q (GNAQ), GNA11, splicing factor 3B subunit 1 (SF3B1), X-linked eukaryotic translation initiation factor 1A (EIF1AX), phospholipase C beta 4 (PLCB4) and cysteinyl leukotriene receptor 2 (CYSLTR2) genes was used to analyse the mutations in Chinese patients. Results: The frequencies of GNAQ and GNA11 mutations in UM were 45% (38/85) and 35% (30/85) respectively. The frequencies of SF3B1 and EIF1AX mutations were 37% (31/85) and 9% (8/85) respectively. Only 2 mutations were detected in exon 4 of GNAQ, and no mutations were detected in exon 4 of GNA11. A novel mutation, c.627G>T (Q209H) in GNA11 was found. The detected mutations affecting SF3B1 were c.1873C>T (R625C), c.1874G>A (R625H) and c.1874G>T (R625L). The association between the mutations in SF3B1 and low risk of metastasis was statistically significant (OR 0.17, 95% CI 0.035-0.819). The mutations affecting EIF1AX were -23G>A (5′-UTR), c.5C>G (P2R), c.23G>A (G8Q), c.25G>C (G9A) and c.38_39GC>CT (R13P). No mutations were found in the PLCB4 and CYSLTR2 genes. Unfortunately, information on BRCA1-associated protein 1 could not be obtained. Conclusions: These data indicate that mutations in the PLCB4 and CYSLTR2 genes are rare in Chinese UM patients. The mutations in GNAQ, GNA11 and EIF1AX were not associated with metastasis, whereas SF3B1 mutations were correlated with low risk of metastasis and demonstrated a protective effect in UM patients in China.
Choroidal melanomas are the most common ocular malignant tumors worldwide. The onset of such tumors is insidious, such that affected patients often have no pain or obvious discomfort during early stages. Notably, enucleation is required for patients with a severe choroidal melanoma, which can seriously impact their quality of life. Moreover, choroidal melanomas metastasize early, often to the liver; this eventually causes affected patients to die of liver failure. Therefore, early diagnosis of choroidal melanomas is extremely important. Unfortunately, an early choroidal melanoma is easily confused with a choroidal nevus, which is the most common benign tumor of the eye and does not often require surgical treatment. This review discusses recent advances in the use of multimodal and molecular imaging to identify choroidal melanomas and choroidal nevi, detect early metastasis, and diagnose patients with choroidal melanomas.
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