eprintid: 24279
rev_number: 10
eprint_status: archive
userid: 1589
dir: disk0/00/02/42/79
datestamp: 2018-04-23 12:27:06
lastmod: 2018-04-25 08:03:54
status_changed: 2018-04-23 12:27:06
type: article
metadata_visibility: show
creators_name: Schartl, Manfred
creators_name: Schories, Susanne
creators_name: Wakamatsu, Yuko
creators_name: Nagao, Yusuke
creators_name: Hashimoto, Hisashi
creators_name: Bertin, Chloé
creators_name: Mourot, Brigitte
creators_name: Schmidt, Cornelia
creators_name: Wilhelm, Dagmar
creators_name: Centanin, Lazaro
creators_name: Guiguen, Yann
creators_name: Herpin, Amaury
title: Sox5 is involved in germ-cell regulation and sex determination in medaka following co-option of nested transposable elements
subjects: ddc-570
divisions: i-721000
abstract: Background: Sex determination relies on a hierarchically structured network of genes, and is one of the most plastic processes in evolution. The evolution of sex-determining genes within a network, by neo- or sub-functionalization, also requires the regulatory landscape to be rewired to accommodate these novel gene functions. We previously showed that in medaka fish, the regulatory landscape of the master male-determining gene dmrt1bY underwent a profound rearrangement, concomitantly with acquiring a dominant position within the sex-determining network. This rewiring was brought about by the exaptation of a transposable element (TE) called Izanagi, which is co-opted to act as a silencer to turn off the dmrt1bY gene after it performed its function in sex determination.   

Results: We now show that a second TE, Rex1, has been incorporated into Izanagi. The insertion of Rex1 brought in a preformed regulatory element for the transcription factor Sox5, which here functions in establishing the temporal and cell-type-specific expression pattern of dmrt1bY. Mutant analysis demonstrates the importance of Sox5 in the gonadal development of medaka, and possibly in mice, in a dmrt1bY-independent manner. Moreover, Sox5 medaka mutants have complete female-to-male sex reversal.

Conclusions: Our work reveals an unexpected complexity in TE-mediated transcriptional rewiring, with the exaptation of a second TE into a network already rewired by a TE. We also show a dual role for Sox5 during sex determination: first, as an evolutionarily conserved regulator of germ-cell number in medaka, and second, by de novo regulation of dmrt1 transcriptional activity during primary sex determination due to exaptation of the Rex1 transposable element.
date: 2018
publisher: Springer ; BioMed Central
id_scheme: DOI
id_number: https://doi.org/10.1186/s12915-018-0485-8
ppn_swb: 1655203681
own_urn: urn:nbn:de:bsz:16-heidok-242799
language: eng
bibsort: SCHARTLMANSOX5ISINVO2018
full_text_status: public
publication: BMC biology
volume: 16
number: 16
place_of_pub: Berlin ; Heidelberg ; London
pagerange: 1-17
issn: 1747-7007
citation:   Schartl, Manfred ; Schories, Susanne ; Wakamatsu, Yuko ; Nagao, Yusuke ; Hashimoto, Hisashi ; Bertin, Chloé ; Mourot, Brigitte ; Schmidt, Cornelia ; Wilhelm, Dagmar ; Centanin, Lazaro ; Guiguen, Yann ; Herpin, Amaury  (2018) Sox5 is involved in germ-cell regulation and sex determination in medaka following co-option of nested transposable elements.  BMC biology, 16 (16).  pp. 1-17.  ISSN 1747-7007     
document_url: https://archiv.ub.uni-heidelberg.de/volltextserver/24279/1/12915_2018_Article_485.pdf