Featured Research

from universities, journals, and other organizations

Gene mutation in dogs offers clues for neural tube defects in humans

Date:
July 19, 2013
Source:
University of California - Davis
Summary:
A gene related to neural tube defects in dogs has for the first time been identified. The gene may be an important risk factor for human neural tube defects, including anencephaly and spina bifida.

Several conditions associated with human neural-tube defects are known to occur naturally in dogs.
Credit: Noa Safra/photo

A gene related to neural tube defects in dogs has for the first time been identified by researchers at the University of California, Davis, and University of Iowa.

The researchers also found evidence that the gene may be an important risk factor for human neural tube defects, which affect more than 300,000 babies born each year around the world, according to the U.S. Centers for Disease Control and Prevention. Neural tube defects, including anencephaly and spina bifida, are caused by the incomplete closure or development of the spine and skull.

The new findings appear this week in the journal PLOS Genetics.

"The cause of neural tube defects is poorly understood but has long been thought to be associated with genetic, nutritional and environmental factors," said Noa Safra, lead author on the study and a postdoctoral fellow in the laboratory of Professor Danika Bannasch in the UC Davis School of Veterinary Medicine.

She noted that dogs provide an excellent biomedical model because they receive medical care comparable to what humans receive, share in a home environment and develop naturally occurring diseases that are similar to those found in humans. More specifically, several conditions associated with neural-tube defects are known to occur naturally in dogs. All DNA samples used in the study were taken from household pets, rather than laboratory animals, Safra said.

She and colleagues carried out genome mapping in four Weimaraner dogs affected by spinal dysraphism, a naturally occurring spinal-cord disorder, and in 96 such dogs that had no neural tube defects. Spinal dysraphism, previously reported in the Weimaraner breed, causes symptoms that include impaired motor coordination or partial paralysis in the legs, abnormal gait, a crouched stance and abnormal leg or paw reflexes.

Analysis of a specific region on canine chromosome eight led the researchers to a mutation in a gene called NKX2-8, one of a group of genes known as "homeobox genes," known to be involved with regulating patterns of anatomical development in the embryo.

The researchers determined that the NKX2-8 mutation occurred in the Weimaraner breed with a frequency of 1.4 percent -- 14 mutations in every 1,000 dogs.

Additionally, they tested nearly 500 other dogs from six different breeds that had been reported to be clinically affected by neural tube defects, but did not find copies of the NKX2-8 gene mutation among the non-Weimaraner dogs.

"The data indicate that this mutation does not appear as a benign mutation in some breeds, while causing defects in other breeds," Safra said. "Our results suggest that the NKX2-8 mutation is a 'private' mutation in Weimaraners that is not shared with other breeds."

The researchers say that identification of such a breed-specific gene may help veterinarians diagnose spinal dysraphism in dogs and enable Weimaraner breeders to use DNA screening to select against the mutation when developing their breeding plans.

In an effort to investigate a potential role for the NKX2-8 mutation in cases of neural tube defects in people, the researchers also sequenced 149 unrelated samples from human patients with spina bifida. They found six cases in which the patients carried mutations of the NKX2-8 gene but stress that further studies are needed to confirm whether these mutations are responsible for the diagnosed neural tube defects.

Collaborating with Safra were Danika Bannasch, Miriam Aguilar, Rochelle L. Coulson, Nicholas Thomas, Peta L. Hitchens, Peter J. Dickinson and Karen M. Vernau, and Zena T. Wolf, all of UC Davis; and Alexander G. Bassuk and Polly J. Ferguson, both of the University of Iowa.

Funding for the study was provided by the Center for Companion Animal Health in the UC Davis School of Veterinary Medicine, the National Institute of Allergy and Infectious Diseases and the Weimaraner Club of America.


Story Source:

The above story is based on materials provided by University of California - Davis. Note: Materials may be edited for content and length.


Journal Reference:

  1. Noa Safra, Alexander G. Bassuk, Polly J. Ferguson, Miriam Aguilar, Rochelle L. Coulson, Nicholas Thomas, Peta L. Hitchens, Peter J. Dickinson, Karen M. Vernau, Zena T. Wolf, Danika L. Bannasch. Genome-Wide Association Mapping in Dogs Enables Identification of the Homeobox Gene, NKX2-8, as a Genetic Component of Neural Tube Defects in Humans. PLoS Genetics, 2013; 9 (7): e1003646 DOI: 10.1371/journal.pgen.1003646

Cite This Page:

University of California - Davis. "Gene mutation in dogs offers clues for neural tube defects in humans." ScienceDaily. ScienceDaily, 19 July 2013. <www.sciencedaily.com/releases/2013/07/130719140022.htm>.
University of California - Davis. (2013, July 19). Gene mutation in dogs offers clues for neural tube defects in humans. ScienceDaily. Retrieved July 23, 2014 from www.sciencedaily.com/releases/2013/07/130719140022.htm
University of California - Davis. "Gene mutation in dogs offers clues for neural tube defects in humans." ScienceDaily. www.sciencedaily.com/releases/2013/07/130719140022.htm (accessed July 23, 2014).

Share This




More Plants & Animals News

Wednesday, July 23, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Stone Fruit Listeria Scare Causes Sweeping Recall

Stone Fruit Listeria Scare Causes Sweeping Recall

Newsy (July 22, 2014) The Wawona Packing Company has issued a voluntary recall on the stone fruit it distributes due to a possible Listeria outbreak. Video provided by Newsy
Powered by NewsLook.com
Michigan Plant's Goal: Flower and Die

Michigan Plant's Goal: Flower and Die

AP (July 22, 2014) An 80-year-old agave plant, which is blooming for the first and only time at a University of Michigan conservatory, will die when it's done (July 22) Video provided by AP
Powered by NewsLook.com
Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Huge Schizophrenia Study Finds Dozens Of New Genetic Causes

Newsy (July 22, 2014) The 83 new genetic markers could open dozens of new avenues for schizophrenia treatment research. Video provided by Newsy
Powered by NewsLook.com
CDC Head Concerned About a Post-Antibiotic Era

CDC Head Concerned About a Post-Antibiotic Era

AP (July 22, 2014) Sounding alarms about the growing threat of antibiotic resistance, CDC Director Tom Frieden warned Tuesday if the global community does not confront the problem soon, the world will be living in a devastating post-antibiotic era. (July 22) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:
from the past week

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins