Morphometry and Geomorphological Investigations of the Neugal Watershed, Beas River Basin, Kangra District, Himachal Pradesh Using GIS Tools

An attempt has been made to study the detailed morphometric and geomorphological characteristics of the Neugal Watershed, which is a part of the Beas River Basin, in Kangra district of Himachal Pradesh, India.  For detailed study of this watershed, geographical information system (GIS) was used in the evaluation of slope, linear stream ordering and relief aspects of morphometric parameters and also in presentation of geomorphological subdivisions of the basin. Surface Tools in ArcGIS-10 software and ASTER (DEM) were used in the preparation of watershed boundary, slope-aspect and different thematic maps like drainage density, slope and relief. More than eight morphometric parameter of different aspects have been computed. It is observed that the stream frequency decreases as the stream order increases and the densities of 1st order streams are higher in the northern, southern and south-eastern part of the Neugal watershed area. Based on the relationship between absolute and relative relief in the study area, it can be indicated that the relative relief increases with the increase in the absolute relief and shows active correlation. In Neugal watershed, the slope is controlled by the structure, and the erosional processes which have resulted in varied landform leading to environmental hazards. Keywords: Morphometric parameters, Geomorphological analysis, Neugal watershed, Relief, Environmental hazard

Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A.

Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule-associated protein 210 (GMAP-210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, vesicular transport, and results in loss of IFT20 anchorage to the Golgi that is vital for ciliary trafficking and ciliogenesis. Here, we report four fetuses, two each from two families, who were ascertained antenatally with ACG1A. Affected fetuses in both families are homozygous for the deep intronic TRIP11 variant, c.5457+81T>A, which was found in a shared region of homozygosity. This variant was found to cause aberrant transcript splicing and the retention of 77 base pairs of intron 18. The TRIP11 messenger RNA and protein levels were drastically reduced in fibroblast cells derived from one of the affected fetuses. Using immunofluorescence we also detected highly compacted Golgi apparatus in affected fibroblasts. Further, we observed a significant reduction in the frequency of ciliated cells and in the length of primary cilia in subject-derived cell lines, not reported so far in patient cells with TRIP11 null or hypomorphic variants. Our findings illustrate how pathogenic variants in intronic regions of TRIP11 can impact transcript splicing, expression, and activity, resulting in ACG1A