New genome discovery to help identify causes of diseases

In a major breakthrough, with the expression pattern of 17,294 proteins being mapped, not only has protein coding genes been identified but also their location in the human body. 

The latest discovery follows the study ‘A Draft Map of the Human Proteome’ undertaken by a group of Indian scientists with proteomic profiling of 30 histologically normal human tissues and primary cells. 

The study has also found 200 novel human proteins that were never part of human protein pool. The study, by scientists from Institute of Bioinformatics (IOB) in collaboration with National Institute of Mental Health and Neuro Science (Nimhans) funded by Department of Biotechnology, will be published on May 29 in the science journal Nature.

Briefing reporters, Nimhans Director Dr P Satish Chandra said after the Human Genome Project in 2003, this was another ground-breaking study which provides a platform to discover causes of diseases among humans. 

The study can be utilised for brain proteomic studies related to cerebral stroke, chronic meningitis such as neurotube- rculosis, rabies and epilepsy. 

The study has also found host proteomic response in neurological disorders and diseases. The novel proteins discovered can now be used as biomarkers to identify the disease or pursued as therapeutic targets in the future. 

IOB faculty scientists Harsha Gowda and T S Keshava Prasad said using the Fourier transform Orbitrap Velos ma- ss spectrometry facility, they have generated tandem mass spectra corresponding to proteins encoded by 17,294 genes. 

These 200-odd novel human proteins that have been encoded by several genes were initially written off as 'pseudogenes' — ancient relics of genes that are non-functional.
 These could now play a potential role in the unexplored human disease pattern, they said. Human Brain Tissue Repository Principal Co-ordinator Dr S K Shankar said their brain banks have contributed by providing human tissues of 17 adults, seven foetal tissues and six haematopoietic cell types. 

He said unlike in the West, which had several brain banks, in India, Nimhans was the only one to have a brain bank. Of the 72 scientists,  42 scientists were Indians, including Akhilesh Pandey from Johns Hopkins University, US scientists from PGIMER, Chandigarh, AFMC Pune and University of Toronto, Canada, also collaborated for the study. 

Nimhans has invested to acquire the latest cutting-edge Orbitrap Fusion Mass Spectrometer worth Rs 8.5 crore to facilitate provision of multiple samples of human brains and tissues for analysis and understanding.