Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

Darier disease (DD) is an autosomal-dominant skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently we constructed a 2.4-Mb, P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1. After screening several genes that mapped to this region, we identified mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2) and is highly expressed in keratinocytes. Thirteen mutations were identified, including frameshift deletions, in-frame deletions or insertions, splice-site mutations and non-conservative missense mutations in functional domains. Our results demonstrate that mutations in ATP2A2 cause DD and disclose a role for this pump in a Ca(2+)-signalling pathway regulating cell-to-cell adhesion and differentiation of the epidermis.     

Mono-isotope Prediction for Mass Spectra Using Bayes Network

Mass spectrometry is one of the widely utilized important methods to study protein functions and components. The challenge of mono-isotope pattern recognition from large scale protein mass spectral data needs computational algorithms and tools to speed up the analysis and improve the analytic results. We utilized na¨?ve Bayes network as the classifier with the assumption that the selected features are independent to predict monoisotope pattern from mass spectrometry. Mono-isotopes detected from validated theoretical spectra were used as prior information in the Bayes method. Three main features extracted from the dataset were employed as independent variables in our model. The application of the proposed algorithm to public Mo dataset demonstrates that our na¨?ve Bayes classifier is advantageous over existing methods in both accuracy and sensitivity.     

Life history, abundance, and distribution of Moapa dace ( Moapa coriacea )

Moapa dace ( Moapa coriacea ) is a federally listed endangered fish endemic to the spring-fed headwaters of the Muddy River, Clark County, Nevada. Species life history, abundance, and distribution were studied from March 1984 to January 1989. Reproduction, which was observed year-round, peaked in spring and was lowest in fall. It occurred in headwater tributaries of the Muddy River within 150 m of warm water spring discharge in water temperatures ranging from 30 to 32 C. Females matured between 41 and 45 mm in fork length (FL). Egg abundance increased with female size ( r 2 = .93); counts ranged from 60 for a 45-mm-FL female to 772 for one 90-mm FL. The oldest of eight fish, aged by the opercle method, was a 90-mm-FL, 4+-year-old female. Adults are omnivorous but tended toward carnivory; 75% of matter by volume consumed was invertebrates and 25% plants and detritus. Fish size was generally commensurate with flow, the largest fish occurring in the greatest flow. Adults were near bottom, in focal velocities ranging from 0 to 55 cm/s. Juveniles occupied a narrower range of depths and velocities than adults, and larvae occupied slack water. From December 1984 to September 1987, the total adult population ranged from 2600 to 2800. Although these numbers are higher than previously believed for Moapa dace, they are still sufficiently low to warrant its endangered status. The dependency of Moapa dace's different life history stages to various areas and habitat types of the Warm Springs area suggests that all remaining habitat is necessary for their survival.