Fins, fur, and wings: the study of Tmem161b across species, and what it tells us about its function in the heart
Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse. In zebrafish, Tmem161b was identified as an essential regulator of cardiac rhythm. In mouse, Tmem161b shows conserved function in regulating cardiac...
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| Published in | Mammalian genome Vol. 34; no. 2; pp. 270 - 275 |
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| Main Authors | , , |
| Format | Journal Article |
| Language | English |
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Springer US
01.06.2023
Springer Nature B.V |
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| Abstract | Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse. In zebrafish, Tmem161b was identified as an essential regulator of cardiac rhythm. In mouse, Tmem161b shows conserved function in regulating cardiac rhythm but has also been shown to impact cardiac morphology. Homozygous or heterozygous missense mutations have also recently been reported for TMEM161B in patients with structural brain malformations, although its significance in the human heart remains to be determined. Across the three model organisms studied to date (fly, fish, and mouse), Tmem161b loss of function is implicated in intracellular calcium ion handling, which may explain the diverse phenotypes observed. This review summarises the current knowledge of this conserved and functionally essential protein in the context of cardiac biology. |
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| AbstractList | Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse. In zebrafish, Tmem161b was identified as an essential regulator of cardiac rhythm. In mouse, Tmem161b shows conserved function in regulating cardiac rhythm but has also been shown to impact cardiac morphology. Homozygous or heterozygous missense mutations have also recently been reported for TMEM161B in patients with structural brain malformations, although its significance in the human heart remains to be determined. Across the three model organisms studied to date (fly, fish, and mouse), Tmem161b loss of function is implicated in intracellular calcium ion handling, which may explain the diverse phenotypes observed. This review summarises the current knowledge of this conserved and functionally essential protein in the context of cardiac biology. Abstract Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse. In zebrafish, Tmem161b was identified as an essential regulator of cardiac rhythm. In mouse, Tmem161b shows conserved function in regulating cardiac rhythm but has also been shown to impact cardiac morphology. Homozygous or heterozygous missense mutations have also recently been reported for TMEM161B in patients with structural brain malformations, although its significance in the human heart remains to be determined. Across the three model organisms studied to date (fly, fish, and mouse), Tmem161b loss of function is implicated in intracellular calcium ion handling, which may explain the diverse phenotypes observed. This review summarises the current knowledge of this conserved and functionally essential protein in the context of cardiac biology. |
| Author | Smith, Kelly A. Briffa, Jessica F. Dominado, Nicole |
| Author_xml | – sequence: 1 givenname: Kelly A. orcidid: 0000-0002-8283-9760 surname: Smith fullname: Smith, Kelly A. email: kelly.smith1@unimelb.edu.au organization: Department of Anatomy & Physiology, The University of Melbourne – sequence: 2 givenname: Nicole orcidid: 0000-0001-9350-1565 surname: Dominado fullname: Dominado, Nicole organization: Department of Anatomy & Physiology, The University of Melbourne – sequence: 3 givenname: Jessica F. orcidid: 0000-0001-5173-4790 surname: Briffa fullname: Briffa, Jessica F. organization: Department of Anatomy & Physiology, The University of Melbourne |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/37222785$$D View this record in MEDLINE/PubMed |
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| Snippet | Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse. In... Abstract Transmembrane protein 161b (Tmem161b) was recently identified in multiple high-through-put phenotypic screens, including in fly, zebrafish, and mouse.... |
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| SubjectTerms | Animal Genetics and Genomics Animals Biomedical and Life Sciences Calcium (intracellular) Cardiomyocytes Cell Biology Danio rerio Diptera Embryos Fins Heart Heterozygote Homozygote Human Genetics Life Sciences Mice Missense mutation Morphogenesis Morphology Mutation, Missense Phenotypes Proteins Zebrafish Zebrafish - genetics |
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| Title | Fins, fur, and wings: the study of Tmem161b across species, and what it tells us about its function in the heart |
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