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Titolo:
A 11.7-kb deletion triggers intersexuality and polledness in goats
Autore:
Pailhoux, E; Vigier, B; Chaffaux, S; Servel, N; Taourit, S; Furet, JP; Fellous, M; Grosclaude, F; Cribiu, EP; Cotinot, C; Vaiman, D;
Indirizzi:
INRA, Ctr Rech, Lab Genet Biochim & Cytogenet, Dept Genet Anim, F-78352 Jouy En Josas, France INRA Jouy En Josas France F-78352 et Anim, F-78352 Jouy En Josas, France INRA, Ctr Rech, Dept Anim Physiol, Lab Biol Dev & Biotechnol, F-78352 JouyEn Josas, France INRA Jouy En Josas France F-78352 otechnol, F-78352 JouyEn Josas, France Inst Pasteur, Human Immunogenet Lab, F-75015 Paris, France Inst Pasteur Paris France F-75015 Immunogenet Lab, F-75015 Paris, France
Titolo Testata:
NATURE GENETICS
fascicolo: 4, volume: 29, anno: 2001,
pagine: 453 - 458
SICI:
1061-4036(200112)29:4<453:A1DTIA>2.0.ZU;2-#
Fonte:
ISI
Lingua:
ENG
Soggetto:
MAMMALIAN SEX DETERMINATION; SRY; BLEPHAROPHIMOSIS; PTOSIS; REGION; MAP; IDENTIFICATION; TRANSLOCATION; DEFINITION; REVERSAL;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
22
Recensione:
Indirizzi per estratti:
Indirizzo: Vaiman, D INRA, Ctr Rech, Lab Genet Biochim & Cytogenet, Dept Genet Anim, F-78352 Jouy En Josas, France INRA Jouy En Josas France F-78352 -78352 Jouy En Josas, France
Citazione:
E. Pailhoux et al., "A 11.7-kb deletion triggers intersexuality and polledness in goats", NAT GENET, 29(4), 2001, pp. 453-458

Abstract

Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome(1). Familial cases of SRY-negative XX sex reversal are rare in humans, often hampering the discovery of new sex-determining genes(2,3). The mouse model is also insufficient to correctly apprehend the sex-determination cascade, as the human pathway is muchmore sensitive to gene dosage(4-6). Other species might therefore be considered in this respect(7). In goats, the polled intersex syndrome (PIS) mutation associates polledness and intersexuality(8,9). The sex reversal affects exclusively the XX individuals in a recessive manner, whereas the absenceof horns is dominant in both sexes. The syndrome is caused by an autosomalgene located at chromosome band 1q43 (ref. 9), shown to be homologous to human chromosome band 3q23 (ref. 10). Through a positional cloning approach,we demonstrate that the mutation underlying PIS is the deletion of a critical 11.7-kb DNA element containing mainly repetitive sequences. This deletion affects the transcription of at least two genes: PISRT1, encoding a 1.5-kb mRNA devoid of open reading frame (ORF), and FOXL2, recently shown to beresponsible for blepharophimosis ptosis epicanthus inversus syndrome (BPES) in humans(11). These two genes are located 20 and 200 kb telomeric from the deletion, respectively.

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Documento generato il 10/04/20 alle ore 16:02:52