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Incomplete Dominance

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.

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Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy.

Shawna R Cook¹, Cleo Schwarz², Julien Guevar³

¹Department of Basic Medical Sciences, College of Veterinary Medicine, Purdue University, West Lafayette, Indiana, USA.

Movement Disorders : Official Journal of the Movement Disorder Society

|August 23, 2024

Summary

A genetic mutation in Miniature American Shepherds causes neuroaxonal dystrophy (NAD), a progressive neurological disorder. This finding establishes a valuable canine model for human spastic paraplegia-85, aiding future therapeutic research.

Keywords:

Miniature American Shepherd animal model hereditary sensory ataxia 1 hereditary spastic paraplegia spheroids

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Area of Science:

Veterinary Neurology
Genetics
Neurodegenerative Diseases

Background:

Neuroaxonal dystrophy (NAD) is a group of inherited neurodegenerative disorders characterized by axonal spheroids in the central nervous system.
NAD presents with clinical and genetic heterogeneity in humans and has been observed in large animal models like dogs.
A novel, progressive neurodegenerative syndrome in Miniature American Shepherds (MAS) was diagnosed as NAD via histopathology.

Purpose of the Study:

To characterize the clinical and pathological features of NAD in MAS dogs.
To identify the genetic basis of this canine neurodegenerative disorder.
To establish a relevant large animal model for human neurodegenerative diseases.

Main Methods:

Clinical and postmortem examinations of affected dogs.
Genome-wide association study (GWAS) and autozygosity mapping.
Whole-genome sequencing to identify causative genetic variants.

Main Results:

Affected MAS dogs exhibited pelvic limb weakness and ataxia, indicative of an abnormal gait.
A 1-base pair deletion in the RNF170 gene was identified as the cause, segregating in an autosomal recessive pattern.
The identified RNF170 deletion is predicted to cause a frameshift and premature truncation of the RNF170 protein.

Conclusions:

The canine NAD phenotype shares similarities with human autosomal recessive spastic paraplegia-85 (SPG85), linked to RNF170 variants.
This MAS NAD model offers a valuable platform for studying human neurodegenerative diseases due to its genetic parallels and the dogs' relatively long lifespan.
The established canine model provides opportunities for preclinical therapeutic trials for related human conditions.