A genetic disease that causes progressive loss of vision is BRetinitis pigmentosa (RP) and is caused by mutations in more than 50 genes.
Conventional methods for identification of both RP mutations and novel RP genes involve the screening of DNA coding sequences.
DNA Finger Printing
DNA fingerprinting is a technique which helps forensic scientists and legal experts solve crimes, identity thefts, legal suits and terrorism cases.
Advertisement
In a paper in the Proceedings of the National Academy of Sciences, researchers from the Massachusetts Eye and Ear, Harvard Medical School, the University of Lausanne, Switzerland, and others tested DNA with the use of whole genome sequencing, a technique that takes into account all variants from both the coding and noncoding regions of the human genome. With this approach the authors report a number of unique RP mutations, a previously undescribed disease gene called NEK2 that involves the retinal photoreceptors, and structural DNA rearrangements originating in introns.
This paper supports the advantages of the use of whole genome sequencing to search for mutations in patients with RP.
The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers.
![Cells Adopt ‘Desperation Strategy’ to Survive DNA Damage]( "Cells Adopt ‘Desperation Strategy’ to Survive DNA Damage")
A new study has shed light on the repair mechanism of cells that suffer damage in both strands of their DNA.
Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. They detected homozygous or compound het erozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown.
Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of 446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, they identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2mRNA. In addition to identifying a previously undescribed ARRP gene, the study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.
Source: Eurekalert
The researchers performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive retinal degeneration and caused by mutations in over 50 genes, in search of pathogenic DNA variants, the authors wrote. Eight patients were from North America, whereas eight were Japanese, a population for which ARRP seems to have different genetic drivers.
Cells Adopt ‘Desperation Strategy’ to Survive DNA Damage
A new study has shed light on the repair mechanism of cells that suffer damage in both strands of their DNA.
Advertisement
Using a specific work flow, they assessed both the coding and noncoding regions of the human genome, including the evaluation of highly polymorphic SNPs, structural and copy number variations, as well as 69 control genomes sequenced by the same procedures. They detected homozygous or compound het erozygous mutations in 7 genes associated with ARRP (USH2A, RDH12, CNGB1, EYS, PDE6B, DFNB31, and CERKL) in eight patients, three Japanese and five Americans. Fourteen of the 16 mutant alleles identified were previously unknown.
Among these, there was a 2.3-kb deletion in USH2A and an inverted duplication of 446 kb in EYS, which would have likely escaped conventional screening techniques or exome sequencing. Moreover, in another Japanese patient, they identified a homozygous frameshift (p.L206fs), absent in more than 2,500 chromosomes from ethnically matched controls, in the ciliary gene NEK2, encoding a serine/threonine-protein kinase. Inactivation of this gene in zebrafish induced retinal photoreceptor defects that were rescued by human NEK2mRNA. In addition to identifying a previously undescribed ARRP gene, the study highlights the importance of rare structural DNA variations in Mendelian diseases and advocates the need for screening approaches that transcend the analysis of the coding sequences of the human genome.
Source: Eurekalert
Tiny Gel Bricks Directed to Self-assemble By Programmable Glue Made of DNA: Researchers
A way to self-assemble complex structures out of bricks smaller than a grain of salt was found by a team of researchers.
Advertisement
 Findings on DNA Repair Could Lead to Better Cancer TreatmentsA basic science discovery that advances the understanding of how DNA repairs itself by medical researchers at the University of Alberta promises improved treatments for cancer. | Advertisement
|
Advertisement
Recommended Reading
Latest Research News
How many people in the UK have misophonia? In a representative sample study, most people had at least some irritation upon hearing trigger sounds.
Routine eye-checkups and mass screenings enable early diagnosis and treatment of glaucoma. Late-stage glaucoma diagnosis leads to blindness.
Brain plasticity following blindness leads to superior ability in sensing signals from the heart, which has implications for bodily awareness and emotional processing.
A group of scientists were awarded £1.3 million to create a new “point of care testing” kit that detects Alzheimer's disease biomarkers.
Is there a connection between Osteoporosis and dementia? Yes, loss in bone density may be linked to an increased risk of dementia in older age.