Computational Biophysical, Biochemical, and Evolutionary Signature of Human R-Spondin Family Proteins, the Member of Canonical Wnt/beta-Catenin Signaling Pathway
BIOMED RESEARCH INTERNATIONAL
Authors: Sharma, Ashish Ranjan; Chakraborty, Chiranjib; Lee, Sang-Soo; Sharma, Garima; Yoon, Jeong Kyo; Doss, C. George Priya; Song, Dong-Keun; Nam, Ju-Suk
Abstract
In human, Wnt/beta-catenin signaling pathway plays a significant role in cell growth, cell development, and disease pathogenesis. Four human (Rspo)s are known to activate canonical Wnt/beta-catenin signaling pathway. Presently, (Rspo) s serve as therapeutic target for several human diseases. Henceforth, basic understanding about the molecular properties of (Rspo) s is essential. We approached this issue by interpreting the biochemical and biophysical properties along with molecular evolution of (Rspo) s thorough computational algorithm methods. Our analysis shows that signal peptide length is roughly similar in (Rspo) s family along with similarity in aa distribution pattern. In Rspo3, four N-glycosylation sites were noted. All members are hydrophilic in nature and showed alike GRAVY values, approximately. Conversely, Rspo3 contains the maximum positively charged residues while Rspo4 includes the lowest. Four highly aligned blocks were recorded through Gblocks. Phylogenetic analysis shows Rspo4 is being rooted with Rspo2 and similarly Rspo3 and Rspo1 have the common point of origin. Through phylogenomics study, we developed a phylogenetic tree of sixty proteins n = 60) with the orthologs and paralogs seed sequences. Protein-protein network was also illustrated. Results demonstrated in our study may help the future researchers to unfold significant physiological and therapeutic properties of (Rspo) s in various disease models.
Genetics of human isolated hereditary nail disorders
BRITISH JOURNAL OF DERMATOLOGY
Authors: Khan, S.; Basit, S.; Habib, R.; Kamal, A.; Muhammad, N.; Ahmad, W.
Abstract
Human hereditary nail disorders constitute a rare and heterogeneous group of ectodermal dysplasias. They occur as isolated and/or syndromic ectodermal conditions where other ectodermal appendages are also involved, and can occur associated with skeletal dysplasia. 'Nail disorder, nonsyndromic congenital' (OMIM; Online Mendelian Inheritance in Man) is subclassified into 10 different types. The underlying genes identified thus far are expressed in the nail bed and play important roles in nail development and morphogenesis. Here, we review the current literature on nail disorders and present a coherent review on the genetics of nail disorders. This review will pave the way to identifying putative genes and pathways involved in nail development and morphogenesis.