2017
DOI: 10.1016/j.yfrne.2017.07.003
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Polymorphisms in sex steroid receptors: From gene sequence to behavior

Abstract: Sex steroid receptors have received much interest as potential mediators of human behaviors and mental disorders. Candidate gene association studies have identified about 50 genetic variants of androgen and estrogen receptors that correlate with human behavioral phenotypes. Because most of these polymorphisms lie outside coding regions, discerning their effect on receptor function is not straightforward. Thus, although discoveries of associations improve our ability to predict risk, they have not greatly advan… Show more

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Cited by 30 publications
(17 citation statements)
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References 271 publications
(278 reference statements)
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“…The 2 kb region upstream of the transcription start site, for example, contains dozens of polymorphisms [30]. Cis-regulatory variation can impact transcription via several mechanisms (see [31]), such as when polymorphisms occur in transcription factor bindings sites, enhancers or DNA sequences that could be methylated. Given the robust morph differences in VIP expression observed in this study, we hypothesize that the ZAL2 and ZAL2 m alleles are differentially regulated and probably show allelic imbalance in both the anterior hypothalamus and infundibular region.…”
Section: Discussionmentioning
confidence: 99%
“…The 2 kb region upstream of the transcription start site, for example, contains dozens of polymorphisms [30]. Cis-regulatory variation can impact transcription via several mechanisms (see [31]), such as when polymorphisms occur in transcription factor bindings sites, enhancers or DNA sequences that could be methylated. Given the robust morph differences in VIP expression observed in this study, we hypothesize that the ZAL2 and ZAL2 m alleles are differentially regulated and probably show allelic imbalance in both the anterior hypothalamus and infundibular region.…”
Section: Discussionmentioning
confidence: 99%
“…Nucleotide polymorphisms of AR and ESR1 of mammals have been studied in great detail, in particular in relation with carcinoma differentiation (Dos Santos et al 2017 ; Eisenegger et al 2017 ) and are thought to correlate with human behavioral and neurological problems (Maney 2017 ). In birds, such analysis in association with neural and behavioral phenotypes is missing.…”
Section: Receptor Structure: Species Differences and Tissue-specific mentioning
confidence: 99%
“…Ingenuity pathway analysis (IPA) also identified multiple signaling pathways previously implicated in depression ( Fig. 4A), including estrogen receptor signaling (20), glucocorticoid receptor signaling (21), activin signaling (22), and the NRF2-mediated antioxidant response (23) ( Fig. 4B and SI Appendix, Figs.…”
Section: Resultsmentioning
confidence: 99%