A 11.7-kb deletion triggers intersexuality and polledness in goats

Pailhoux, Eric; Vigier, B.; Chaffaux, Stéphane; Servel, Nathalie; Taourit, Séad; Furet, Jean-Pierre; Fellous, Marc; Grosclaude, F.; Cribiu, Edmond; Cotinot, Corinne; Vaiman, Daniel

doi:10.1038/ng769

Cited by 312 publications

(293 citation statements)

References 20 publications

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“…Indeed, such pathologies can occur in different mammalian species, including humans and goats (Vaiman and Pailhoux, 2000). In XX goat gonads carrying the PIS mutation, SOX9 expression is up-regulated in the absence of the SRY gene during the early stages of gonad differentiation (Pailhoux et al, 2001(Pailhoux et al, , 2002. In this mutated goat, the strongest hypothesis to explain the up-regulation of SOX9 without SRY is a loss-of-repression of SOX9 by FOXL2 and estrogens (Uhlenhaut et al, 2009;Pannetier et al, 2006b).…”

Section: Introductionmentioning

confidence: 98%

A study of goat SRY protein expression suggests putative new roles for this gene in the developing testis of a species with long‐lasting SRY expression

Montazer-Torbati

Kocer

Auguste

et al. 2010

Developmental Dynamics

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The testis-determining gene SRY is not well-conserved among mammals, and particularly between mouse and other mammals. To evaluate SRY function in a nonrodent species, we produced an antibody against goat SRY and used it to investigate the expression pattern of SRY throughout goat testicular development. By contrast with the mouse, SRY is primarily expressed in most cells of XY genital-ridges and not solely in pre-Sertoli cells. Between cord formation and prepuberty, SRY remains expressed in both Sertoli and germinal cells. During adulthood, SRY expression declines and then disappears from meiotic germ cells, only remaining present at low levels in some spermatogonia. Unlike the germinal lineage, SRY continues to be highly expressed in adult Sertoli cells with a typical nuclear staining. Our data indicate that in goat, the role of SRY may not be limited to testis determination and could have other functions in testicular maintenance and hence male fertility. Developmental Dynamics 239:3324-3335,

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Section: Introductionmentioning

confidence: 98%

A study of goat SRY protein expression suggests putative new roles for this gene in the developing testis of a species with long‐lasting SRY expression

Montazer-Torbati

Kocer

Auguste

et al. 2010

Developmental Dynamics

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“…Studies of BPES phenotype and spatiotemporal Foxl2 expression in the mouse have demonstrated that FOXL2 is highly involved in ovarian function and eyelid development. PIS-deletion in goats, causing the polled intersex syndrome affects the transcription of two genes (FOXL2 and PISRT1) in horn buds and gonads (Pailhoux et al, 2001). Both genes are located downstream from the deletion on the same chromosome region (Chi 1q43).…”

Section: Introductionmentioning

confidence: 99%

Isolation of chicken homolog of the FOXL2 gene and comparison of its expression patterns with those of aromatase during ovarian development

Govoroun

Pannetier

Pailhoux

et al. 2004

Developmental Dynamics

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Mutations in the forkhead transcription factor gene FOXL2 are involved in ovarian failure, which occurs in human BPES syndrome. This syndrome presents a sexually dimorphic expression, specific to the ovary in several vertebrates. We cloned the open reading frame of chicken FOXL2 (cFoxL2) and studied cFoxL2 expression in developing gonads and during adulthood to examine the role of FOXL2 in ovarian differentiation and function in birds. The spatial and temporal dynamics of cFoxL2 and aromatase expression were analyzed in parallel by using real-time quantitative reverse transcriptase-polymerase chain reaction and immunohistochemistry in attempt to investigate the possible role of cFoxL2 in the regulation of aromatase. The expression patterns of cFoxL2 and aromatase transcripts were highly correlated during the sex-differentiation period (4.7-12.7 days of incubation). Aromatase and cFoxL2 proteins were colocalized in the medullar part of female gonads on embryonic day 14. Fourteen days after hatching, cFoxL2 protein was mainly detected in granulosa cells of developing follicles. In adult ovary follicular envelopes, apart from granulosa cells, cFoxL2 transcript and protein were detected at lower levels in theca cells where aromatase was present. A high level of cFoxL2 transcription was also observed in maturing and ovulated oocytes. Our results confirm that FoxL2 is an early regulator of ovarian development in birds and may be involved in aromatase transcription regulation. Developmental Dynamics 231:859 -870, 2004.

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“…Ce type d'inversion sexuelle est rencontré chez l'homme, mais aussi chez plusieurs espèces animales : le chien, le cheval, le porc et la chèvre. À l'heure actuelle, deux gènes responsables de ce type de pathologie ont pu être isolés, FOXL2 chez la chèvre et R-Spondin1 (RSPO1) chez l'homme [9,10]. Chez la chèvre, la perte de fonction du gène FOXL2 est syndromique.…”

Section: Foxl2 Un Gène Z Candidatunclassified

“…C'est une mutation régulatrice qui affecte l'expression de FOXL2 et d'au moins 2 longs ARN non codants, de manière différente selon le tissu considéré (perte d'expression dans les ovaires, gain d'expression dans les cornes). Dans les gonades, la perte de fonction de FOXL2 entraîne très précocement (1) la déféminisation de la gonade, avec notamment perte de l'expression de l'enzyme codant pour l'aromatase (et donc perte de la production d'oestrogènes) et (2) la surexpression de SOX9 et la masculinisation complète des gonades et du tractus génital interne et externe des individus XX [10,11].…”

Section: Foxl2 Un Gène Z Candidatunclassified

“…La fixation de PRDM9 sur ses cibles permet, selon un méca-nisme qui reste à découvrir, de spécifier des sites préférentiels d'initiation de la recombinaison à l'origine des points chauds. Des approches différentes ont permis à deux autres équipes d'identifier indépendamment le rôle de PRDM9 dans la spécification des points chauds de recombinaison chez la souris et chez l'homme [9,10]. Une particularité remarquable de ce mécanisme est que des changements dans les doigts de zinc de PRDM9, s'ils modifient la séquence d'ADN reconnue, suffisent à changer les cibles génomiques de PRDM9 et par conséquent à renouveler les points chauds de recombinaison dans l'ensemble du génome.…”

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