1. lifelines
  2. Dog DNA provides clues to spina bifida and other neural tube birth defects in humans

Dog DNA provides clues to spina bifida and other neural tube birth defects in humans

By dr. dolittle on July 22, 2013.
Image from: Noa Safra, UC Davis Image from: Noa Safra, UC Davis

Weimaraner dogs are helping researchers to understand neural tube birth defects, like anencephaly (where the brain or skull do not fully develop) and spina bifida (where the spinal column is not fully enclosed). In new research published this week in PLOS One, Dr. Noa Safra (UC Davis, School of Veterinary Medicine) and colleagues mapped the genomes of Weimaraner dogs that had spinal dysraphism, a neural tube defect, along with samples from humans with spina bifida. They discovered mutations in a gene called NKX2-8 that is known to be involved in embryonic development in the canine samples, but only 6 out of 149 of the human samples. Certainly more studies are needed to determine if mutations in this gene are related to neural tube defects in a portion of human cases.

Sources:

Safra N, Bassuk A, Ferguson P, et al. 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 One Genetics. 2013.

UC Davis Press Release

Tags
Life Science
anencephaly
birth defect
dog
pregnancy
spina bifida
Weimaraner

More like this

Neurological Defect Spotlight: Anencephaly
One of the most severe developmental defects is called anencephaly, which literally means "without a brain." However, usually some brain tissue develops normally, but the forebrain and cerebrum is small or absent. This defect is caused by an error in the development of the nervous system and brain…
Slender yield from fat gene studies
Willer et al. (2008). Six new loci associated with body mass index highlight a neuronal influence on body weight regulation Nature Genetics DOI: 10.1038/ng.287 Thorleifsson et al. (2008). Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity…
Genome-Wide Associations in Asians
Genome-Wide Association Study in Asian Populations Identifies Variants in ETS1 and WDFY4 Associated with Systemic Lupus Erythematosus: In this study, we first conducted a genome-wide association study in a Hong Kong Chinese population, followed by replication in three other cohorts from Mainland…
Anencephaly and right-wing moralizers
There's an important phenomenon in development called neurulation. This is a process that starts with a flat sheet of ectodermal cells, folds them into a tube, and creates our dorsal nervous system. Here's a simple cross-section of the process in a salamander, but in general outline we humans do…