TheSycp1Loci of the Mouse Genome: Successive Retropositions of a Meiotic Gene during the Recent Evolution of the Genus

Sage, Julien; Li, Yuan; Martin, Luc; Matteï, Marie‐Geneviève; Guénet, Jean-Louis; Liu, Jianguo; Höög, Christer; Rassoulzadegan, Minoo; Cuzin, François

doi:10.1006/geno.1997.4832

Cited by 15 publications

(4 citation statements)

References 30 publications

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“…For expression in meiotic cells, the vector promoter was replaced with the mouse Sycp1 promoter (À722/þ102). 15,16 The resultant plasmids were then injected into the rete testis, because this produced less damage to testicular tissue than injections into seminiferous tubules or direct injection into the parenchyma of the testis. We used a 4-wk-old DDY mouse without elongated spermatids or mature sperm, which might inhibit successful transfection into spermatocytes.…”

Section: Rna Analysismentioning

confidence: 99%

Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss

Bolor

Mori

Nishiyama

et al. 2009

The American Journal of Human Genetics

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Aneuploidy, a chromosomal numerical abnormality in the conceptus or fetus, occurs in at least 5% of all pregnancies and is the leading cause of early pregnancy loss in humans. Accumulating evidence now suggests that the correct segregation of chromosomes is affected by events occurring in prophase during meiosis I. These events include homologous chromosome pairing, sister-chromatid cohesion, and meiotic recombination. In our current study, we show that mutations in SYCP3, a gene encoding an essential component of the synaptonemal complex that is central to the interaction of homologous chromosomes, are associated with recurrent pregnancy loss. Two out of 26 women with recurrent pregnancy loss of unknown cause were found to carry independent heterozygous nucleotide alterations in this gene, neither of which was present among a group of 150 fertile women. Analysis of transcripts from minigenes harboring each of these two mutations revealed that both affected normal splicing, possibly resulting in the production of C-terminally mutated proteins. The mutant proteins were found to interact with their wild-type counterpart in vitro and inhibit the normal fiber formation of the SYCP3 protein when coexpressed in a heterologous system. These data suggest that these mutations are likely to generate an aberrant synaptonemal complex in a dominant-negative manner and contribute to abnormal chromosomal behavior that might lead to recurrent miscarriage. Combined with the fact that similar mutations have been previously identified in two males with azoospermia, our current data suggest that sexual dimorphism in response to meiotic disruption occurs even in humans.

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Section: Rna Analysismentioning

confidence: 99%

Mutations of the SYCP3 Gene in Women with Recurrent Pregnancy Loss

Bolor

Mori

Nishiyama

et al. 2009

The American Journal of Human Genetics

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“…Retrogene replacement appears to be a relatively common mechanism in Ciona (Kim et al 2014 ), and with the genome compaction, dispersal and gene loss in tunicates (Berna and Alvarez-Valin 2014 ; Dehal et al 2002 ; Hughes and Friedman 2005 ), this mechanism may contribute to their fast genome evolution. In addition, the existence of multiple instances of SYCP1 retrogene copies within the mouse (Sage et al 1997 ) also suggests that SYCP1 is perhaps prone to retrotransposition, at least within the chordates. The expression of SYCP1 within the germ line may very well make SYCP1 a target for the ‘out-of-the-testis’ route of retrogene production (Kleene et al 1998 ; Vinckenbosch et al 2006 ) and eventual replacement of the parent gene by the retrocopy (Ciomborowska et al 2013 ).…”

Section: Discussionmentioning

confidence: 99%

“…The second, Sycp1-ps2, is transcribed and represents a much younger pseudogene. Interestingly, this second retrocopy is found only within lab strains of Mus musculus and is absent even from wild Mus musculus populations, highlighting the much more recent nature of this second Sycp1 retrotransposition event (Sage et al 1997 ).…”

Section: Introductionmentioning

confidence: 95%

“…This localisation of SYCP1 to the germ cells is such that a promoter fragment of SYCP1 is sufficient to drive germline expression in zebrafish without requiring additional regulatory elements (Gautier et al 2013 ). It is this expression of SYCP1 within the germ cells that may have led to the multiple instances of SYCP1 retrogene formation (Ferrier et al 2005 ; Sage et al 1997 ), with the mouse alone having at least one SYCP1 retrocopy. The first of these, Sycp1-ps1 , is present across several related Mus sub-species but has accumulated multiple point mutations and deletions and is no longer transcribed.…”

Section: Introductionmentioning

confidence: 99%

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Amphioxus SYCP1: a case of retrogene replacement and co-option of regulatory elements adjacent to the ParaHox cluster

Garstang

Ferrier

2018

Dev Genes Evol

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Retrogenes are formed when an mRNA is reverse-transcribed and reinserted into the genome in a location unrelated to the original locus. If this retrocopy inserts into a transcriptionally favourable locus and is able to carry out its original function, it can, in rare cases, lead to retrogene replacement. This involves the original, often multi-exonic, parental copy being lost whilst the newer single-exon retrogene copy ‘replaces’ the role of the ancestral parent gene. One example of this is amphioxus SYCP1, a gene that encodes a protein used in synaptonemal complex formation during meiosis and which offers the opportunity to examine how a retrogene evolves after the retrogene replacement event. SYCP1 genes exist as large multi-exonic genes in most animals. AmphiSYCP1, however, contains a single coding exon of ~ 3200 bp and has inserted next to the ParaHox cluster of amphioxus, whilst the multi-exonic ancestral parental copy has been lost. Here, we show that AmphiSYCP1 has not only replaced its parental copy, but also has evolved additional regulatory function by co-opting a bidirectional promoter from the nearby AmphiCHIC gene. AmphiSYCP1 has also evolved a de novo, multi-exonic 5′untranslated region that displays distinct regulatory states, in the form of two different isoforms, and has evolved novel expression patterns during amphioxus embryogenesis in addition to its ancestral role in meiosis. The absence of ParaHox-like expression of AmphiSYCP1, despite its proximity to the ParaHox cluster, also suggests that this gene is not influenced by any potential pan-cluster regulatory mechanisms, which are seemingly restricted to only the ParaHox genes themselves.Electronic supplementary materialThe online version of this article (10.1007/s00427-017-0600-9) contains supplementary material, which is available to authorized users.

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