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New Variation (new + variation)
Selected AbstractsMutations in human monoamine-related neurotransmitter pathway genes,HUMAN MUTATION, Issue 7 2008Jan Haavik Abstract Biosynthesis and metabolism of serotonin and catecholamines involve at least eight individual enzymes that are mainly expressed in tissues derived from the neuroectoderm, e.g., the central nervous system (CNS), pineal gland, adrenal medulla, enterochromaffin tissue, sympathetic nerves, and ganglia. Some of the enzymes appear to have additional biological functions and are also expressed in the heart and various other internal organs. The biosynthetic enzymes are tyrosine hydroxylase (TH), tryptophan hydroxylases type 1 and 2 (TPH1, TPH2), aromatic amino acid decarboxylase (AADC), dopamine beta-hydroxylase (D,H), and phenylethanolamine N -methyltransferase (PNMT), and the specific catabolic enzymes are monoamine oxidase A (MAO-A) and catechol O -methyltransferase (COMT). For the TH, DDC, DBH, and MAOA genes, many single nucleotide polymorphisms (SNPs) with unknown function, and small but increasing numbers of cases with autosomal recessive mutations have been recognized. For the remaining genes (TPH1, TPH2, PNMT, and COMT) several different genetic markers have been suggested to be associated with regulation of mood, pain perception, and aggression, as well as psychiatric disturbances such as schizophrenia, depression, suicidality, and attention deficit/hyperactivity disorder. The genetic markers may either have a functional role of their own, or be closely linked to other unknown functional variants. In the future, molecular testing may become important for the diagnosis of such conditions. Here we present an overview on mutations and polymorphisms in the group of genes encoding monoamine neurotransmitter metabolizing enzymes. At the same time we propose a unified nomenclature for the nucleic acid aberrations in these genes. New variations or details on mutations will be updated in the Pediatric Neurotransmitter Disorder Data Base (PNDDB) database (www.bioPKU.org). Hum Mutat 29(7), 891,902, 2008. © 2008 Wiley-Liss, Inc. [source] New variations of Epstein,Barr virus-encoded small RNA genes in nasopharyngeal carcinomas, gastric carcinomas, and healthy donors in northern ChinaJOURNAL OF MEDICAL VIROLOGY, Issue 5 2010Yun Wang Abstract It has been generally believed that the Epstein,Barr virus (EBV)-encoded small RNA 1 and 2 (EBER1 and EBER2) genes are conserved as two families that correlated with type 1 (B95-8) and type 2 (AG876 or P3HR-1) EBV strains. EBER polymorphism and its association with EBV-associated disease have not received much attention. To explore the variations of EBER genes in different malignancies and healthy donors, the sequences of EBER genes were analyzed in 154 EBV-positive samples, including 47 nasopharyngeal carcinoma (NPC), 50 EBV-associated gastric carcinoma (EBVaGC) biopsies and 57 throat washing (TW) samples from healthy donors in northern China, where NPC is non-endemic. Three main distinct variants of EBER genes, designated as EB-6m, EB-8m, and EB-10m, were identified. EB-6m had a previously identified EBER sequence identical to P3HR-1 and was found in 33/47 (70.2%) NPC, 48/50 (96.0%) EBVaGC, and 54/57 (94.7%) TW isolates. EB-8m and EB-10m were new EBER variants with more mutations in EBER2 genes. They were found in 13/47 (27.7%) NPC cases, whereas in only 1/50 (2.0%) EBVaGC cases and not found in TW cases. The distributions were significantly different (P,<,0.05). Other five isolates (one NPC, one EBVaGC and three TW cases) showed different sequences and could not be assigned to any of the three groups. Type 1 EBV strains showed heterogeneous in terms of EBER variants. These results suggest that EBER locus can be useful to identify different EBV isolates, and it would be interesting to evaluate the association of EBER polymorphisms with EBV-associated tumors. J. Med. Virol. 82: 829,836, 2010. © 2010 Wiley-Liss, Inc. [source] Silencing of an abdominal Hox gene during early development is correlated with limb development in a crustacean trunkEVOLUTION AND DEVELOPMENT, Issue 2 2010Cheryl C. Hsia SUMMARY We tested whether Artemia abd-A could repress limbs in Drosophila embryos, and found that although abd-A transcripts were produced, ABD-A protein was not. Similarly, developing Artemia epidermal cells showed expression of abd-A transcripts without accumulation of ABD-A protein. This finding in Artemia reveals a new variation in Hox gene function that is associated with morphological evolution. In this case, a HOX protein expression pattern is completely absent during early development, although the HOX protein is expressed at later stages in the central nervous system in a "homeotic-like" pattern. The combination of an absence of ABD-A protein expression in the Artemia limb primordia and the weak repressive function of Artemia UBX protein on the limb-promoting gene Dll are likely to be two reasons why homonomous limbs develop throughout the entire Artemia trunk. [source] Cell phone roulette and "consumer interactive" qualityJOURNAL OF POLICY ANALYSIS AND MANAGEMENT, Issue 2 2005Peter Navarro Under current policies, cell phone consumers face a lower probability of finding the best carrier for their usage patterns than winning at roulette. Corroborating survey data consistently show significant dissatisfaction among cell phone users, network performance is a major issue, and customer "churn" is high. This problem may be traced to a new form of "consumer interactive" quality characteristic of emergent high technology products such as cell phone and broadband services. This problem is unlikely to be resolved by effective search and sampling, efficient secondary markets, or voluntary carrier disclosure. Traditional one-dimensional disclosure responses to this new variation on an old asymmetric information problem should give way to a more multi-faceted and fine-grained policy approach. © 2005 by the Association for Public Policy Analysis and Management [source] Two Zosterophyll Plants from the Lower Devonian (Lochkovian) Xitun Formation of Northeastern Yunnan, ChinaACTA GEOLOGICA SINICA (ENGLISH EDITION), Issue 3 2009Jinzhuang XUE Abstract: Two zosterophyll plants are described from the Lower Devonian (Lochkovian) Xitun Formation of Qujing, Yunnan, China. Xitunia spinitheca gen. et sp. nov. has stalked sporangia laterally attached on the axis in a helical arrangement. Sporangia are dorsoventrally flattened and composed of two unequal valves; the adaxial valve is round in face view, while the abaxial valve is larger than the former, triangular or wedge-shaped, and radially bears long spiny appendages along the distal margin. Xitunia shows new variation of sporangial morphology within the zosterophylls. Zosterophyllum minorstachyum sp. nov. has K-shaped branchings at the basal parts and small-sized terminal spikes, which consist of round to elliptical sporangia arranged helically. This paper provides new data on the diversity of plant types during Lochkovian when rare vascular plants were reported. As for various species of Zosterophyllum in South China, their apparent evolutionary trend of features from the Late Silurian to Early Devonian (Emsian) is discussed. [source] What causes 3-year-olds' difficulty on the dimensional change card sorting task?INFANT AND CHILD DEVELOPMENT, Issue 2 2002Josef Perner Abstract Fifty-six children aged 3;01 to 4;11 years were tested with the standard DCCS task (Frye et al., Cognitive development 10:483,527. 1995) where children have to switch from one sorting dimension (e.g. colour) to another (e.g. shape), and with three variations of this task. The aim was to explore different factors (extra-dimensional vs. reversal shift and presence of visual clash between target and test cards) that may account for 3-year olds' executive problems on this task. The only difficult task was the standard DCCS task with a visual clash and an extra-dimensional shift (mean of 3.55 out of five cards sorted correctly). The three new variations were all much easier (means of 4.6 or higher out of five cards sorted correctly). The difficulty with the DCCS task was particularly pronounced for 3-year olds when the task was presented first (mean of 0.50 correct) whereas when it followed one or more of the other tasks then children's mean number correct was 4.0 or above. Implications of this finding are discussed for the theory that younger children suffer from an inability to inhibit a predominant sorting strategy and the cognitive complexity and control theory postulating limitations in understanding higher order rules, negative priming of the initially ignored dimension, and children's difficulty in understanding that the change in the task consists in a redescription of the original cards. Copyright © 2002 John Wiley & Sons, Ltd. [source] | ||||||||||