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Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law
Signaling lymphocyte activation molecule family member 9 (SLAMF9) is a cell surface protein of the CD2/SLAM family of leukocyte surface receptors. It is conserved throughout mammals and has roles in the initiation of inflammatory responses and regulation of plasmacytoid dendritic cell function. Thro...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898023/ https://www.ncbi.nlm.nih.gov/pubmed/33616677 http://dx.doi.org/10.1007/s00251-021-01208-7 |
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author | Murphy, Maegan K. Moon, Justin T. Skolaris, Alexis T. Mikulin, Joseph A. Wilson, Timothy J. |
author_facet | Murphy, Maegan K. Moon, Justin T. Skolaris, Alexis T. Mikulin, Joseph A. Wilson, Timothy J. |
author_sort | Murphy, Maegan K. |
collection | PubMed |
description | Signaling lymphocyte activation molecule family member 9 (SLAMF9) is a cell surface protein of the CD2/SLAM family of leukocyte surface receptors. It is conserved throughout mammals and has roles in the initiation of inflammatory responses and regulation of plasmacytoid dendritic cell function. Through comparison of reference sequences encoding SLAMF9 in human, mouse, and primate sequences, we have determined that the SLAMF9 gene underwent successive mutation events, resulting in the loss of the protein and subsequent recovery of a less stable version. The mutations included a single base pair deletion in the second exon and a change in the splice acceptor site of that same exon. These changes would have had the effect of creating and later repairing a frameshift in the coding sequence. These events took place since the divergence of the human lineage from the chimpanzee-human last common ancestor and represent the first known case of the functional loss and recovery of a gene within the human lineage. |
format | Online Article Text |
id | pubmed-7898023 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Springer Berlin Heidelberg |
record_format | MEDLINE/PubMed |
spelling | pubmed-78980232021-02-22 Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law Murphy, Maegan K. Moon, Justin T. Skolaris, Alexis T. Mikulin, Joseph A. Wilson, Timothy J. Immunogenetics Original Article Signaling lymphocyte activation molecule family member 9 (SLAMF9) is a cell surface protein of the CD2/SLAM family of leukocyte surface receptors. It is conserved throughout mammals and has roles in the initiation of inflammatory responses and regulation of plasmacytoid dendritic cell function. Through comparison of reference sequences encoding SLAMF9 in human, mouse, and primate sequences, we have determined that the SLAMF9 gene underwent successive mutation events, resulting in the loss of the protein and subsequent recovery of a less stable version. The mutations included a single base pair deletion in the second exon and a change in the splice acceptor site of that same exon. These changes would have had the effect of creating and later repairing a frameshift in the coding sequence. These events took place since the divergence of the human lineage from the chimpanzee-human last common ancestor and represent the first known case of the functional loss and recovery of a gene within the human lineage. Springer Berlin Heidelberg 2021-02-22 2021 /pmc/articles/PMC7898023/ /pubmed/33616677 http://dx.doi.org/10.1007/s00251-021-01208-7 Text en © The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature 2021 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic. |
spellingShingle | Original Article Murphy, Maegan K. Moon, Justin T. Skolaris, Alexis T. Mikulin, Joseph A. Wilson, Timothy J. Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law |
title | Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law |
title_full | Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law |
title_fullStr | Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law |
title_full_unstemmed | Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law |
title_short | Evidence for the loss and recovery of SLAMF9 during human evolution: implications on Dollo’s law |
title_sort | evidence for the loss and recovery of slamf9 during human evolution: implications on dollo’s law |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7898023/ https://www.ncbi.nlm.nih.gov/pubmed/33616677 http://dx.doi.org/10.1007/s00251-021-01208-7 |
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