Biology:CARS1
Cysteinyl-tRNA synthetase 1 is an enzyme (EC 6.1.1.16) that in humans is encoded by the CARS1 gene. It is an aminoacyl tRNA synthetase that attaches the cysteine amino acid onto its corresponding transfer RNA (tRNA). Cysteinyl tRNA in turn is used by the ribosome to transfer cysteine onto a growing peptide chain during protein synthesis, according to the genetic code.[1]
Clinical significance
Trichothiodystrophy
Bi-allelic mutations in CARS1 have been identified to cause the non-photosensitive form of trichothiodystrophy (TTD-NPS).[2] This disorder is characterized by neurodevelopmental problems, sulfur-deficient brittle hair and nails, ichthyosis, and growth retardation.[3] In contrast to the photosensitive version of TTD (PS-TTD), which has the characteristics of progressive neuropathy and accelerated aging, NPS-TTD is not linked with premature aging.[4]
According to one study, individuals who present with bi-allelic CARS loss-of-function mutations are unique in presenting with a brittle-hair-and-nail phenotype, which could be related to the high cysteine content in human keratins.[2]
References
- ↑ "Functional and pathologic association of aminoacyl-tRNA synthetases with cancer". Experimental & Molecular Medicine 54 (5): 553–566. May 2022. doi:10.1038/s12276-022-00765-5. ISSN 1226-3613. PMID 35501376.
- ↑ 2.0 2.1 "Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails" (in en). American Journal of Human Genetics 104 (3): 520–529. March 2019. doi:10.1016/j.ajhg.2019.01.006. ISSN 0002-9297. PMID 30824121.
- ↑ "Orphanet: Trichothiodystrophy". Archived from the original on 2024-05-30. https://web.archive.org/web/20240530224637/www.orpha.net/en/disease/detail/33364.
- ↑ "Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy". Human Molecular Genetics 30 (18): 1711–1720. August 2021. doi:10.1093/hmg/ddab123. ISSN 0964-6906. PMID 33909043. PMC 8411986. Archived from the original on 2024-05-23. https://web.archive.org/web/20240523035056/academic.oup.com/hmg/article/30/18/1711/6256034.
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