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Genetic Polymorphism Of Prss12 Gene Responsible For Cognitive Dysfunction And Its Homology Analysis With Canine

By: Hafsa Amjad (2014-VA-776) | Dr. Muhammad Yasir Zahoor.
Contributor(s): Dr. Muhammad Imran | Mr. Shahid Abass.
Material type: materialTypeLabelBookPublisher: 2016Description: 85p.Subject(s): Molecular Biology and Biotechnology | IBBTDDC classification: 2498-T Dissertation note: Neurotrypsin a multi domain serine protease predominantly expressed in brain is considered to be involved in cognition by the establishment and maintenance of synapses in mammals. Mutations in PRSS12 gene have been reported for cognitive disability in Algerian family. In present study, DNA of 10 enrolled non-relative cognitive dysfunctioned patients was extracted through organic method. The normal individual samples of siblings and parents of relevant families was also included in this study as control. This amplification exon 7 of PRSS12 was done after designing primer by using Primer3 software. Exons was sequenced by using BigDye Terminator Cycle Sequencing Ready Kit(Perkin Elmer/ABI) and read in automated sequener, ABI Prism model 3730 (Perkin Elmer). No significant mutation was identified in affected individuals. Computational comparative sequence analysis tools were used for the nucleotide and amino acid sequences to predict the homology in PRSS12 gene among mammals of well-developed cognition. PROSITE domain database search was performed to determine domain organization and Phyre software was used to develop secondary structural features and 3D protein models and ReptroX for multiple sequence alignment of tertiary structures. Using the generated alignments highly conserved regions in primary and secondary structures of neurotrypsin in mammals were identified. Phylogenetic analysis indicated highest similarity of human PRSS12 with non-human primates (chimpanzee, orangutan and monkey) followed by Catecians, Felis, and Canine evolving from the same ancestor. The predicted domain architecture shows the neurotrypsin consisting of kringle domain, four scavenger receptor cysteine-rich CHAPTER 6 SUMMARY Summary 68 domains and a serine protease domain named trypsin. Whereas mouse consists of only three scavenger receptor cysteine-rich domain. Prediction and comparison of domains in mammals indicated that primates and catecians protein domains have high similarity with humans. Computational analysis by using animal models can aid in evolutionary studies and. understanding the role of neurotrypsin in cognition.
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Veterinary Science 2498-T (Browse shelf) Available 2498-T
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Neurotrypsin a multi domain serine protease predominantly expressed in brain is considered to be involved in cognition by the establishment and maintenance of synapses in mammals. Mutations in PRSS12 gene have been reported for cognitive disability in Algerian family.
In present study, DNA of 10 enrolled non-relative cognitive dysfunctioned patients was extracted through organic method. The normal individual samples of siblings and parents of relevant families was also included in this study as control. This amplification exon 7 of PRSS12 was done after designing primer by using Primer3 software. Exons was sequenced by using BigDye Terminator Cycle Sequencing Ready Kit(Perkin Elmer/ABI) and read in automated sequener, ABI Prism model 3730 (Perkin Elmer). No significant mutation was identified in affected individuals.
Computational comparative sequence analysis tools were used for the nucleotide and amino acid sequences to predict the homology in PRSS12 gene among mammals of well-developed cognition. PROSITE domain database search was performed to determine domain organization and Phyre software was used to develop secondary structural features and 3D protein models and ReptroX for multiple sequence alignment of tertiary structures. Using the generated alignments highly conserved regions in primary and secondary structures of neurotrypsin in mammals were identified. Phylogenetic analysis indicated highest similarity of human PRSS12 with non-human primates (chimpanzee, orangutan and monkey) followed by Catecians, Felis, and Canine evolving from the same ancestor. The predicted domain architecture shows the neurotrypsin consisting of kringle domain, four scavenger receptor cysteine-rich
CHAPTER 6
SUMMARY
Summary
68
domains and a serine protease domain named trypsin. Whereas mouse consists of only three scavenger receptor cysteine-rich domain. Prediction and comparison of domains in mammals indicated that primates and catecians protein domains have high similarity with humans. Computational analysis by using animal models can aid in evolutionary studies and. understanding the role of neurotrypsin in cognition.

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