Navigation Links
Whole DNA sequencing reveals mutations, new gene for blinding disease
Date:9/22/2013

BOSTON -- Retinitis pigmentosa (RP) is a genetic disease that causes progressive loss of vision 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.

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.

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.


'/>"/>

Contact: Mary Leach
Mary_Leach@meei.harvard.edu
617-573-4170
Massachusetts Eye and Ear Infirmary
Source:Eurekalert

Related medicine news :

1. Mayo Clinic launches whole genome breast cancer study
2. Kidney cancer patients do better when whole kidney is not removed, U-M study shows
3. Low-dose whole-body CT finds disease missed on standard imaging for patients with multiple myeloma
4. Highly targeted irradiation as good as whole breast radiotherapy in early stage cancer
5. Beef & Pork Wholesaling in the US Industry Market Research Report Now Available from IBISWorld
6. Treating the whole person with autism
7. Treating the whole person with autism sets direction for parent-clinician collaboration
8. Whole-genome scan helps select best treatment for childhood cancer
9. Rebuilding a whole heart for children born with only half of 1
10. Benefit6 Whole Body Protection, a New Product by I Do Strive LLC, Provides Maximum Antioxidant Protection
11. Benefit6 Whole Body Protection, a New Product by I Do Strive LLC, Provides Increased Energy Production According to Recent Studies
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/22/2017)... ... May 22, 2017 , ... An inventor from Columbia, ... a pen. "My wife’s hand was damaged in a firework accident, so she couldn’t ... people with manual problems." , He then designed and created a prototype for the ...
(Date:5/22/2017)... ... May 22, 2017 , ... Faithfully following pop culture, ... squatted, stretched, jumped, toned and shaped through fitness programs. It carries on to skin ... finished off with an irresistible, radiant smile. CDA has found that just ...
(Date:5/21/2017)... ... May 19, 2017 , ... Chris Cornell, 52, was found dead on the night of ... the most respected lead singers in the rock industry would take his own life, but ... FindaTopDoc investigates how mental illness played a role in the death of Chris Cornell ...
(Date:5/21/2017)... CA (PRWEB) , ... May 20, 2017 , ... ... paragraph styled corporate text designs created specifically for use in Final Cut Pro ... process for all media productions. Pixel Film Studios’ ProParagraph Corporate will deliver a ...
(Date:5/21/2017)... ... 2017 , ... Florida Pain Relief Group, a division of Physician Partners of ... Silver Palm Ave., Melbourne, on Monday, May 22. Initially the clinic will be supervised ... practice, PPOA operates 23 pain management clinics in Florida and the Dallas-Fort Worth, Texas ...
Breaking Medicine News(10 mins):
(Date:5/8/2017)... , May 8, 2017 MACRA ... transition from fee for service reimbursement. Black Book Research ... 1.       The Market for MIPS Compliance ... 77% of physician practices with 3 or more clinicians ... Solutions by Q4. "Given the magnitude of the changes, ...
(Date:5/6/2017)... , May 5, 2017   Provista , a proven ... than 200,000 customers, today announced Jim Cunniff as ... of executive and business experience to Provista, including most recently ... in California . He assumed his new ... is a great fit for Provista," says Jody Hatcher ...
(Date:5/6/2017)... FALLS, N.Y. , May 5, 2017  Hill-Rom ... that will add approximately 100,000 square feet to its ... in September 2016 its commitment to bring more than ... , where Welch Allyn has maintained a significant ... will help accommodate these new positions, a large portion ...
Breaking Medicine Technology: