| Full text | |
| Author(s): Show less - |
Cukier, Priscilla
[1, 2]
;
Wright, Hollis
[3]
;
Rulfs, Tomke
[3]
;
Gontijo Silveira, Leticia Ferreira
[1, 2]
;
Teles, Milena Gurgel
[1, 2]
;
Mendonca, Berenice Bilharinho
[1, 2]
;
Arnhold, Ivo J. P.
[1, 2]
;
Heger, Sabine
[4]
;
Latronico, Ana Claudia
[1, 2]
;
Ojeda, Sergio R.
[3]
;
Brito, Vinicius Nahime
[1, 2]
Total Authors: 11
|
| Affiliation: | [1] Univ Sao Paulo, Fac Med, Unidade Endocrinol Desenvolvimento, Disciplina Endocrinol, BR-05403900 Sao Paulo - Brazil
[2] Lab Hormonios & Genet Mol LIM 42, Sao Paulo - Brazil
[3] OHSU, ONPRC, Div Neurosci, Beaverton, OR - USA
[4] Hannover Med Sch, Childrens Hosp Auf der Bult, Inst Clin Biochem, Hannover - Germany
Total Affiliations: 4
|
| Document type: | Journal article |
| Source: | Hormone Research in Paediatrics; v. 80, n. 4, p. 257-266, 2013. |
| Web of Science Citations: | 11 |
| Abstract | |
Background/Aim: TTF1 and EAP1 are transcription factors that modulate gonadotropin-releasing hormone expression. We investigated the contribution of TTF1 and EAP1 genes to central pubertal disorders. Patients and Methods: 133 patients with central pubertal disorders were studied: 86 with central precocious puberty and 47 with normosmic isolated hypogonadotropic hypogonadism. The coding region of TTF1 and EAP1 were sequenced. Variations of polyglutamine and polyalanine repeats in EAP1 were analyzed by GeneScan software. Association of TTF1 and EAP1 to genes implicated in timing of puberty was investigated by meta-network framework GeneMANIA and Cytoscape software. Results: Direct sequencing of the TTF1 did not reveal any mutation or polymorphisms. Four EAP1 synonymous variants were identified with similar frequencies among groups. The most common EAP1 5'-distal polyalanine genotype was the homozygous 12/12, but the genotype 12/9 was identified in 2 central precocious puberty sisters without functional alteration in EAP1 transcriptional activity. TTF1 and EAP1 were connected, via genetic networks, to genes implicated in the control of menarche. Conclusion: No TTF1 or EAP1 germline mutations were associated with central pubertal disorders. TTF1 and EAP1 may affect puberty by changing expression in response to other members of puberty-associated gene networks, or by differentially affecting the expression of gene components of these networks. (C) 2013 S. Karger AG, Basel (AU) | |