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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...

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Autores principales: Murphy, Maegan K., Moon, Justin T., Skolaris, Alexis T., Mikulin, Joseph A., Wilson, Timothy J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
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.
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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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