SETMAR, a case of primate co-opted genes: towards new perspectives

Abstract

Background We carry out a review of the history and biological activities of one domesticated gene in higher primates, SETMAR, by discussing current controversies. Our purpose is to open a new outlook that will serve as a framework for future work about SETMAR, possibly in the field of cognition development. Main body What is newly important about SETMAR can be summarized as follows: (1) the whole protein sequence is under strong purifying pressure; (2) its role is to strengthen existing biological functions rather than to provide new ones; (3) it displays a tissue-specific pattern of expression, at least for the alternative-splicing it undergoes. Studies reported here demonstrate that SETMAR protein(s) may be involved in essential networks regulating replication, transcription and translation. Moreover, during embryogenesis, SETMAR appears to contribute to brain development. Short conclusion Our review underlines for the first time that SETMAR directly interacts with genes involved in brain functions related to vocalization and vocal learning. These findings pave the way for future works regarding SETMAR and the development of cognitive abilities in higher primates.

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency

“…SETMAR is involved in essential networks regulating replication, transcription and translation. It also contributed to brain development during embryogenesis 23,24 . In the study, the proband showed the heterozygote deletion of SETMAR and no point mutation was detected by whole‐exome sequencing.…”

“…It also contributed to brain development during embryogenesis. 23,24 In the study, the proband showed the heterozygote deletion of SETMAR and no point mutation was detected by whole-exome sequencing. Moreover, the Database of Genomic Variants displayed many individuals in the general population has heterozygous deletions in the part of their genome and implied that heterozygous deletions of SETMAR were not deleterious.…”

Role of Transposable Elements in Genome Stability: Implications for Health and Disease

“…Of note, some of the most important physiological contributions are from the TE-derived genes, which in turn participate in a variety of biological functions [ 40 ]. One such example is the Metnase/SETMAR gene, which is a fusion gene comprising histone H3 methylase gene and a transposase belonging to the mariner transposon family; it has been shown to function as a domesticated primate transposon playing critical roles in non-homologous end-joining of DNA repair and replication [ 69 ] and confers resistance to ionizing radiations [ 70 ]. Transposable elements are crucial components in tissue development and morphology [ 71 ] as well as impact in synaptic plasticity and cognition [ 72 ].Transposon element expression is associated with a cytokine response and induces recruitment and infiltration of immune cells in cancer and other inflammatory diseases.…”

Investigating the Expression Pattern of the SETMAR Gene Transcript Variants in Childhood Acute Leukemia: Revisiting an Old Gene

“…13,14 Molecular evolution studies have shown that SET-MAR is a transposase-derived protein containing a fusion of SET, a histone-lysine methyltransferase domain, and a transposase domain (MAR). 15,16 The SET domain that includes the pre-SET, the SET, and the post-SET subdomains is encoded by exons 1 and 2 of SETMAR. The MAR domain that contains the DNA binding and the catalytic subdomains is encoded by exon 3.…”