Identification of new exons used in the retina may help find the cause of disease in these patients. To date, investigators have identified more than 200 retinal degeneration disease genes, but still can't find the cause of disease for up to of the patients affected by these disorders. These diseases are caused by misspellings or mutations in genes that are needed for vision. Pierce and colleagues in the OGI study inherited retinal degenerations, which are common causes of vision loss. This work is valuable to help scientists understand how the retina works, and how it is affected by disease. Pierce, Director of the OGI and the Solman and Libe Friedman Associate Professor of Ophthalmology, Harvard Medical School. "While this may not sound like a lot, it shows that there is more to discover about the human genome, and that each tissue may use distinct parts of the genome," said Dr. In total, the newly detected mRNA sequence increased the number of exons identified in the human genome by 3 percent. Several thousand of the novel exons appear to be used specifically in the retina. The investigators validated almost 15,000 of these novel transcript features and found that more than 99 percent of them could be reproducibly detected. Exons are the portions of the genome that are used to encode proteins or other genetic elements. Farkas and colleagues identified almost 30,000 novel exons and over 100 potential novel genes that had not been identified previously. This in itself is not surprising, because the retina is a complex tissue comprised of 60 cell types. The resulting catalog of expressed genes, or transcriptome, demonstrates that the majority of the 20,000+ genes in the human body are expressed in the retina. For these studies, the investigators used a technique called RNA sequencing (RNA-seq) to identify all of the messenger RNAs (mRNAs) produced in the human retina.
If one thinks of the eye as a camera, the retina in the "film" in the camera. It is responsible to receiving light signals, converting them into neurologic signals and sending those signals to the brain so that we can see. The retina is the neural tissue in the back of the eye that initiates vision. Eye and Ear reported a complete catalog of the genes expressed in the retina.
Michael Farkas, Eric Pierce and colleagues in the Ocular Genomics Institute (OGI) at Mass. In a study published today in the journal BMC Genomics, Drs. Researchers report a complete description of gene expression in the human retina Public release date: 1 Ĭontact: Mary Leach 61 Massachusetts Eye and Ear Infirmary Findings published online in BMC GenomicsīOSTON - Investigators at Massachusetts Eye and Ear and Harvard Medical School have published the most thorough description of gene expression in the human retina reported to date.
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