Genes linked to hearing and vestibular phenotypes in humans and mice: an interspecies systematic review

The inner ear assumes dual functionalities of auditory perception and equilibrium maintenance. The vestibule is the organ responsible for balance. This organ contains mechanoreceptors, specifically hair cells, endowed with stereocilia, which aid in deciphering information regarding the position and motion of our heads. Two intrinsic components, the utricle and saccule, help perceive head position, while the semicircular canals track head movement. Neurological messages initiated in the...

The vestibular system is a set of inner ear structures that provide a sense of balance and spatial orientation. This system is comprised of structures within the labyrinth of the inner ear, including the cochlea and two otolith organs—the utricle and saccule. The labyrinth also contains three semicircular canals—superior, posterior, and horizontal—that are oriented on different planes.

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.

When we hear a sound, our nervous system is detecting sound waves—pressure waves of mechanical energy traveling through a medium. The frequency of the wave is perceived as pitch, while the amplitude is perceived as loudness.

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...