A Novel Small Deletion in the A TP2A2 Gene in a Patient with Sporadic Darier's Disease and Concomitant Depression: A Case Report

Introduction:Darier's disease is a rare autosomal dominant skin disorder caused by mutations in ATP2A2.Recently,the high prevalence of neuropsychiatric symptoms is frequently reported in Darier's disease patients.We present a case of patient with concurrence of Darier's disease and depression and detected the mutations in Case presentation:A 29-year-old man presented with a 15-year history of brown,harsh keratotic papules on his scalp,face,neck,trunk,axilla,ingunia and upper limbs.Meanwhile,he had persistent depression.He was diagnosed as Darier's disease according to clinical manifestations and result of histological examination.We sequenced all coding regions of ATP2A2.The mutation c.2993_2994del(p.Val998Alafs*33)in exon 20 of ATP2A2 was detected.Discussion:Darier's disease has been associated with several extracutaneous manifestations,in particular neuropsychiatric morbidity.Likely gene disrupting mutations in ATP2A2 was reported to have a close relationship to Darier's disease cases with reported co-occurring neuropsychiatric features.Consistent with the previous reports,an likely gene disrupting mutations was detected in our patient with concurrence of DD end depression.Conclusion:The psychiatric disorders in patients with Darier's disease should be well appreciated.The underlying mechanism in correlation between the mutation in ATP2A2 and neuropsychiatric phenotypes in Darier's disease remain unclarified and warrants further investigation.

DBLiPro:A Database for Lipids and Proteins in Human Lipid Metabolism

To help researchers in the field of biology,medicine,chemistry,and materials science to use lipidomic data conveniently,there is an urgent need to develop a platform that provides a systematic knowledgebase of human lipid metabolism and lipidome-centric omics analysis tools.DBLiPro is a user-friendly webserver allowing for access to human metabolism-related lipids and proteins knowledge database and an interactive bioinformatics integrative analysis workflow for lipidomics,transcriptomics,and proteomics data.In DBLiPro,there are 3109 lipid-associated proteins(LAPs)and 2098 lipid metabolites in the knowledge base section,which were obtained from Uniprot,Kyoto Encyclopedia of Genes and Genomes(KEGG)and were further annotated by information from other public resources in the knowledge base section,such as RaftProt and PubChem.DBLiPro offers a step-by-step interactive analysis workflow for lipidomics,transcriptomics,proteomics,and their integrating multi-omics analysis focusing on the human lipid metabolism.In summary,DBLiPro is capable of helping users discover key molecules(lipids and proteins)in human lipid metabolism and investigate lipid–protein functions underlying mechanisms based on their own omics data.The DBLiPro is freely available at http://lipid.cloud na.cn/home.

Unraveling the Acidithiobacillus caldus complete genome and its central metabolisms for carbon assimilation

Acidithiobacillus caldus is one of the dominant sulfur-oxidizing bacteria in bioleaching reactors. It plays the essential role in maintaining the high acidity and oxidation of reduced inorganic sulfur compounds during bioleaching process. In this report, the complete genome sequence of A. caldus SM-1 is presented. The genome is composed of one chromosome （2,932,225 bp） and four plasmids （pLAtcl, pLAtc2, pLAtc3, pLAtcm） and it is rich in repetitive sequences （accounting for 11% of the total genome）, which are often associated with transposable genetic elements. In particular, twelve copies of ISAtfe and thirty-seven copies of ISAtcl have been identified, suggesting that they are active transposons in the genome. A. caldus SM-1 encodes all enzymes for the central metabolism and the assimilation of carbon compounds, among which 29 proteins/enzymes were identifiable with proteomic tools. The SM-1 fixes CO2 via the classical Calvin-Bassham--Benson （CBB） cycle, and can operate complete Embden-Meyerhof pathway （EMP）, pentose phosphate pathway （PPP）, and gluconeogenesis. It has an incomplete tricarboxylic acid cycle （TCA）. Four putative transporters involved in carbohydrate uptake were identified. Taken together, the results suggested that SM-1 was able to assimilate carbohydrates and this was subsequently confirmed experimentally because addition of 1% glucose or sucrose in basic salt medium significantly increased the growth of SM-1. It was concluded that the complete genome of SM-1 provided fundamental data for further investigation of its physiology and genetics, in addition to the carbon metabolism revealed in this study.

Insights into the Bamboo Genome:Syntenic Relationships to Rice and Sorghum

Bamboo occupies an important phylogenetic node in the grass family and plays a significant role in the forest industry.We produced 1.2 Mb of tetraploid moso bamboo （Phyllostachys pubescens E.Mazel ex H.de Leh.） sequences from 13 bacterial artificial chromosome （BAC） clones,and these are the largest genomic sequences available so far from the subfamily Bambusoideae.The content of repetitive elements （36.2%） in bamboo is similar to that in rice.Both rice and sorghum exhibit high genomic synteny with bamboo,which suggests that rice and sorghum may be useful as models for decoding Bambusoideae genomes.