Raisa Bano

Sequence and structure based assessment of nonsynonymous SNPs in hypertrichosis universalis

Hairs are complex structures, making a protective layer and serves different biological functions. TRPS1, a transcription factor is one of the candidate genes causing congenital hypertrichosis, an excessive hair growth at inappropriate body parts. SNPs of TRPS1 were retrieved from dbSNP which were screened by SIFT and PolyPhen servers based on their functional impacts. Out of the screened SNPs, rs181507248 and rs146506752 were predicted as intolerant and damaging by both the servers. The predicted tertiary structure of the native TRPS1 after refinement and validation was successfully submitted to the Protein Model Database and was assigned with PMDB ID PM0077843, as it was previously unpredicted. It was observed through the structure based analysis that, the SNPs rs181507248 and rs146506752 caused significant changes in the secondary and tertiary structures as well as the physiochemical properties of TRPS1 protein. It can thus be concluded that the changed properties due to these single nucleotide polymorphisms effect the interactions of TRPS1 which result in congenital hypertrichosis.

miRNAs: Small but deadly

Early pregnancy factor (EPF) is essential for the initiation and maintenance of pregnancy. Early pregnancy factor activity monitoring has been reported to be the effective method for very early pregnancy diagnosis. In this study, three BALB/c mice were immunized with the synthetic peptide segment corresponding to the amino acid sequence 36 to 55 of EPF (IG 20 ) for anti-EPF antibodies. Mouse anti-EPF antiserum titers were evaluated by an indirect enzyme-linked immunosorbent assay (ELISA), and the titers were 6.4 × 10 3 . Serum samples were taken from 21 Yorkshire × Landrace crossbred sows (12 pregnant and 9 non-pregnant). The presence of EPF in these serum samples was detected by a blocking ELISA using the antigen-antibody (Ag-Abs) reaction between IG 20 -ovalbumin and mouse anti-EPF antiserum for very early pregnancy diagnosis, blank was used as negative controls. The optical density (OD) values were measured at 450 nm, and the OD ratios of negative control/serum sample (N/S) >2.1 were considered positive, and N/S <2.1 negative. When the test serum samples were in 1/4 dilutions with PBS, twelve samples from pregnant swine were positive, nine non-pregnant serum samples were negative. Very early pregnancy can be determined by using the mouse anti-EPF antiserum blocking ELISA in swine.

Comparative modeling studies of rat amiloride-sensitive cation channel 1, neuronal isoform b

Acid-sensing ion channels (ASICs) of the epithelial sodium channel/degenerin (ENaC/DEG) gene family are protongated cation channels. ASICs have two transmembrane segments which are hydrophobic. Various proton-gated ion channels suggest that, ASIC and MDEG probably seems to be the first two members of this family and the genes for the new channels remain to be discovered. The presence of a large extracellular domain between two transmembrane alpha-helices and the short NH2 and COOH terminal cytoplasmic segments, characterizes these proteins. In order to relate the three-dimensional (3D) structure to their physiological function, channel proteins have been the focus of various computational approaches. On the basis of available X-ray structures, structural models of channels may be constructed by homology modeling. Here we present 3D structure of rat Amiloride-sensitive cation channel 1, neuronal isoform B through Comparative Modeling studies. Our studies will be useful in understanding the biochemical functions and interaction properties in detail.