Expression and characterization of androgen receptor coregulators, SRC-2 and HBO1, during human testis ontogenesis and in androgen signaling deficient patients

Vija, Lavinia; Meduri, Géri; Compérat, Éva; Vasiliu, Viorel; Izard, V.; Ferlicot, Sophie; Boukari, Kahina; Camparo, Philippe; Viengchareun, Say; Constancis, E.; Dumitrache, Constantin; Lombès, Marc; Young, Jacques

doi:10.1016/j.mce.2013.05.004

Cited by 12 publications

(8 citation statements)

References 43 publications

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“…Several other genes related to testicular growth and development were identified. Many of these genes are also directly involved in spermatogenesis, such as the HILS1 gene that remodels chromatin during gamete production [ 50 ], the KAT7 and ICAM2 genes expressed in Sertoli cells [ 51 , 52 ], the TCAM1 gene expressed in spermatocytes [ 53 ], the SLC26A3 gene that is essential for sperm capacitation [ 54 ], and the RAD18 gene that plays a crucial role in genome maintenance during sperm production [ 55 ]. Other important genes are the FBXO32 (Chr14/17.83–18.51Mb) and EBF2 (Chr08/73.91-75Mb) genes related to infertility and hypogonadism in men, respectively [ 56 , 57 ], and the GH1 gene (Chr19/48.69–49.21Mb) associated with seminal characteristics and sexual behavior in cattle [ 58 ].…”

Section: Resultsmentioning

confidence: 99%

Genome-Wide Association Study for Indicator Traits of Sexual Precocity in Nellore Cattle

et al. 2016

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The objective of this study was to perform a genome-wide association study (GWAS) to detect chromosome regions associated with indicator traits of sexual precocity in Nellore cattle. Data from Nellore animals belonging to farms which participate in the DeltaGen® and Paint® animal breeding programs, were used. The traits used in this study were the occurrence of early pregnancy (EP) and scrotal circumference (SC). Data from 72,675 females and 83,911 males with phenotypes were used; of these, 1,770 females and 1,680 males were genotyped. The SNP effects were estimated with a single-step procedure (WssGBLUP) and the observed phenotypes were used as dependent variables. All animals with available genotypes and phenotypes, in addition to those with only phenotypic information, were used. A single-trait animal model was applied to predict breeding values and the solutions of SNP effects were obtained from these breeding values. The results of GWAS are reported as the proportion of variance explained by windows with 150 adjacent SNPs. The 10 windows that explained the highest proportion of variance were identified. The results of this study indicate the polygenic nature of EP and SC, demonstrating that the indicator traits of sexual precocity studied here are probably controlled by many genes, including some of moderate effect. The 10 windows with large effects obtained for EP are located on chromosomes 5, 6, 7, 14, 18, 21 and 27, and together explained 7.91% of the total genetic variance. For SC, these windows are located on chromosomes 4, 8, 11, 13, 14, 19, 22 and 23, explaining 6.78% of total variance. GWAS permitted to identify chromosome regions associated with EP and SC. The identification of these regions contributes to a better understanding and evaluation of these traits, and permits to indicate candidate genes for future investigation of causal mutations.

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Section: Resultsmentioning

confidence: 99%

Genome-Wide Association Study for Indicator Traits of Sexual Precocity in Nellore Cattle

et al. 2016

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“…Finally, two lysine acetyltransferase coding genes of the MYST family, KAT6A (lysine acetyltransferase 6A, also named MOZ, OAR26: 35.3 Mb) and KAT7 (lysine acetyltransferase 7, also named HBO1, OAR11: 36.4 Mb) has been reported to play a key role in acetylation of lysine residues in histone H3 and/or H4 (Kitabayashi et al, 2001). Interestingly, KDM8, NCOA3 and KAT7 act as androgen or estrogen receptor co-regulators (Sharma et al, 2000;Vija et al, 2013;Wagner et al, 2013;Wang et al, 2019). Polymorphisms that alter the function of these genes could explain that female lambs had higher GDMR than male lambs.…”

Section: Discussionmentioning

confidence: 99%

Genetic Determinism Exists for the Global DNA Methylation Rate in Sheep

et al. 2020

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Recent studies showed that epigenetic marks, including DNA methylation, influence production and adaptive traits in plants and animals. So far, most studies dealing with genetics and epigenetics considered DNA methylation sites independently. However, the genetic basis of the global DNA methylation rate (GDMR) remains unknown. The main objective of the present study was to investigate genetic determinism of GDMR in sheep. The experiment was conducted on 1,047 Romane sheep allocated into 10 half-sib families. After weaning, all the lambs were phenotyped for global GDMR in blood as well as for production and adaptive traits. GDMR was measured by LUminometric Methylation Analysis (LUMA) using a pyrosequencing approach. Association analyses were conducted on some of the lambs (n = 775) genotyped by using the Illumina OvineSNP50 BeadChip. Blood GDMR varied among the animals (average 70.7 ± 6.0%). Female lambs had significantly higher GDMR than male lambs. Inter-individual variability of blood GDMR had an additive genetic component and heritability was moderate (h2 = 0.20 ± 0.05). No significant genetic correlation was found between GDMR and growth or carcass traits, birthcoat, or social behaviors. Association analyses revealed 28 QTLs associated with blood GDMR. Seven genomic regions on chromosomes 1, 5, 11, 17, 24, and 26 were of most interest due to either high significant associations with GDMR or to the relevance of genes located close to the QTLs. QTL effects were moderate. Genomic regions associated with GDMR harbored several genes not yet described as being involved in DNA methylation, but some are already known to play an active role in gene expression. In addition, some candidate genes, CHD1, NCO3A, KDM8, KAT7, and KAT6A have previously been described to be involved in epigenetic modifications. In conclusion, the results of the present study indicate that blood GDMR in domestic sheep is under polygenic influence and provide new insights into DNA methylation genetic determinism.

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“…The AR can interact with a diverse range of proteins, including components of the general transcription machinery, specific transcription factors and proteins that act as co-activators or co-repressors, also known as co-regulators of AR function. The histone acetyltransferase binding to the origin recognition complex, HBO1 (also known as MYST2 in rodents or KAT7 in humans) has been shown to act as a co-repressor of the AR in prepubertal Sertoli cells [91]. HBO1 prevents the action of steroid receptor coactivator 2 (SRC2, formerly known as TIF2), an AR co-activator that interacts with the activation function 1 (AF1) and 2 (AF2) domains of the AR [92].…”

Section: Ar Signaling In Sertoli Cellsmentioning

confidence: 99%

Importance of the Androgen Receptor Signaling in Gene Transactivation and Transrepression for Pubertal Maturation of the Testis

Edelsztein

Rey

2019

Cells

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Androgens are key for pubertal development of the mammalian testis, a phenomenon that is tightly linked to Sertoli cell maturation. In this review, we discuss how androgen signaling affects Sertoli cell function and morphology by concomitantly inhibiting some processes and promoting others that contribute jointly to the completion of spermatogenesis. We focus on the molecular mechanisms that underlie anti-Müllerian hormone (AMH) inhibition by androgens at puberty, as well as on the role androgens have on Sertoli cell tight junction formation and maintenance and, consequently, on its effect on proper germ cell differentiation and meiotic onset during spermatogenesis.

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Expression and characterization of androgen receptor coregulators, SRC-2 and HBO1, during human testis ontogenesis and in androgen signaling deficient patients

Cited by 12 publications

References 43 publications

Genome-Wide Association Study for Indicator Traits of Sexual Precocity in Nellore Cattle

Genome-Wide Association Study for Indicator Traits of Sexual Precocity in Nellore Cattle

Genetic Determinism Exists for the Global DNA Methylation Rate in Sheep

Importance of the Androgen Receptor Signaling in Gene Transactivation and Transrepression for Pubertal Maturation of the Testis

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