Spinster homolog 2 (spns2) deficiency causes early onset progressive hearing loss

• Published in: PLoS genetics Vol. 10; no. 10; p. e1004688
• Main Authors: Chen, Jing, Ingham, Neil, Kelly, John, Jadeja, Shalini, Goulding, David, Pass, Johanna, Mahajan, Vinit B, Tsang, Stephen H, Nijnik, Anastasia, Jackson, Ian J, White, Jacqueline K, Forge, Andrew, Jagger, Daniel, Steel, Karen P
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 01.10.2014; Public Library of Science (PLoS)
• Subjects: Age of Onset; Animals; Anion Transport Proteins - deficiency; Anion Transport Proteins - genetics; Anion Transport Proteins - metabolism; Anterior Eye Segment - metabolism; Anterior Eye Segment - pathology; Biology and Life Sciences; Causes of; Cochlea - metabolism; Cochlea - pathology; Connexin 26; Connexins; Deafness; Ear, Inner - pathology; Gene expression; Genetic aspects; Hair Cells, Auditory - metabolism; Hair Cells, Auditory - pathology; Health aspects; Hearing loss; Hearing Loss - genetics; Hearing Loss - metabolism; Hearing Loss - pathology; Labeling; Lysophospholipids - metabolism; Mice; Mutation; Organogenesis - genetics; Proteins; Sphingosine - analogs & derivatives; Sphingosine - metabolism; Stria Vascularis - pathology; Zebrafish

Spinster homolog 2 (Spns2) acts as a Sphingosine-1-phosphate (S1P) transporter in zebrafish and mice, regulating heart development and lymphocyte trafficking respectively. S1P is a biologically active lysophospholipid with multiple roles in signalling. The mechanism of action of Spns2 is still elusi...