Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia

Sandbacka, Maria; Bruce, Sara; Halttunen, Mervi; Puhakka, Minna; Hannula-Jouppi, Katariina; Lipsanen‐Nyman, Marita; Kere, Juha; Aittomäki, Kristiina; Laivuori, Hannele

doi:10.1016/j.fertnstert.2011.03.019

Cited by 11 publications

(8 citation statements)

References 32 publications

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“…Environmental exposure, chromosomal abnormalities and hormone factors were thought to be possible mechanisms of MDA, but majority of cases were considered to be idiopathic (Bernardini et al, 2009;Hoffmann et al, 1976;Morcel et al, 2007;Nik-Zainal et al, 2011;Sandbacka et al, 2011). Some candidate genes have been assumed based on genetically modified animal models, including the WNT gene family, HOXA gene family, LHX1, PBX1, PAX2, SHOX and EMX2 (Burel et al, 2006;Cheroki et al, 2006;Ottolenghi et al, 2007;Jorgensen et al, 2010;Gervasini et al, 2010;Hunter and Rhodes, 2005;Miyamoto et al, 1997;Tong et al, 2007;Van-Lingen et al, 1998a, 1998bVainio et al, 1999).…”

Section: Introductionmentioning

confidence: 99%

Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women

Chang

Qin

Cheng

et al. 2012

Reproductive BioMedicine Online

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The WNT4 gene plays a crucial role in sexual differentiation and female genital tract development. This study screened WNT4 for mutation in 189 Chinese women with Müllerian duct abnormalities (10 Mayer-Rokitansky-Küster-Hauser syndrome, five Müllerian aplasia and 174 incomplete Müllerian fusion) and detected no perturbation that would indicate a major role for WNT4. Only one novel synonymous mutation (c.1091G>A) in exon 5 and one known single-nucleotide polymorphism (rs16826648) in exon 2 were found. The results suggest that WNT4 might not contribute to the aetiology of Müllerian duct abnormalities in Chinese women.

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Section: Introductionmentioning

confidence: 99%

Mutations in WNT4 are not responsible for Müllerian duct abnormalities in Chinese women

Chang

Qin

Cheng

et al. 2012

Reproductive BioMedicine Online

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“…The most‐severely hypomethylated females show congenital aplasia of the uterus and upper vagina, and severely hypomethylated males exhibit cryptorchidism and testicular agenesis (Bliek et al, ; Bruce et al, ). H19 hypomethylation is also associated with some Müllerian aplasia patients, whose congenital abnormalities of the female genital tract produce vaginal and uterine malformations that limit reproduction to methods involving surrogacy (Sandbacka et al, ). Because paternal silencing of H19 and paternal expression of IGF2R are coupled, it is not clear whether aberrant expression of either or both loci is responsible for the reproductive phenotypes of these patients.…”

Section: Reproductive Diseasementioning

confidence: 99%

Long non‐coding RNA regulation of reproduction and development

Taylor

Chu

Spektor

et al. 2015

Molecular Reproduction Devel

151

114

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SUMMARY Noncoding RNAs (ncRNAs) have long been known to play vital roles in eukaryotic gene regulation. Studies conducted over a decade ago revealed that maturation of spliced, polyadenylated coding mRNA occurs by reactions involving small nuclear RNAs and small nucleolar RNAs; mRNA translation depends on activities mediated by transfer RNAs and ribosomal RNAs, subject to negative regulation by micro RNAs; transcriptional competence of sex chromosomes and some imprinted genes is regulated in cis by ncRNAs that vary by species; and both small-interfering RNAs and piwi-interacting RNAs bound to Argonaute-family proteins regulate post-translational modifications on chromatin and local gene expression states. More recently, gene-regulating noncoding RNAs have been identified, such as long intergenic and long noncoding RNAs (collectively referred to as lncRNAs)—a class totaling more than 100,000 transcripts in humans, which include some of the previously mentioned RNAs that regulate dosage compensation and imprinted gene expression. Here, we provide an overview of lncRNA activities, and then review the role of lncRNAs in processes vital to reproduction, such as germ cell specification, sex determination and gonadogenesis, sex hormone responses, meiosis, gametogenesis, placenta-tion, non-genetic inheritance, and pathologies affecting reproductive tissues. Results from many species are presented to illustrate the evolutionary conserved processes lncRNAs are involved in.

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“…However, no single gene or mutation of a gene has been identified to be responsible for the onset of this condition (Morcel et al, 2008(Morcel et al, , 2012Nodale et al, 2014). Galactose-1-phosphate uridyl transferase (GALT) (Klipstein et al, 2003), cystic fibrosis transmembrane regulator (CFTR) (Timmreck et al, 2003), hepatocyte nuclear factor 1 homeobox B (HNF-1β) or transcription factor 2 (TCF2) (Bernardini et al, 2009), retinoid X receptors (RXR-α and RAR-) (Cheroki et al, 2006), maternally expressed transcript (non-protein coding) (H19) (Sandbacka et al, 2011), laminin-gamma 1 (LAMC1) (Ravel et al, 2012), disks large homolog 1 (DLGH1) (Ravel et al, 2012), and β-catenin (Drummond et al, 2008) genes have all been analyzed, but are not likely the cause of this condition. Involvement of other candidate genes, such as ITIH5 (Morcel et al, 2013), WNT9B (Wang et al, 2014), SHOX (Gervasini et al, 2010;Nodale et al, 2014), TBX6 (Nik-Zainal et al, 2011), LHX1 (Bernardini et al, 2009;Ledig et al, 2011;Cheroki et al, 2008), KLHL4 (Cheroki et al, 2008), HOXB2 (Nodale et al, 2014), HOXB5 (Nodale et al, 2014), HOXC8 (Nodale et al, 2014), WISP2 (Rall et al, 2011), and MUC1 (Hossain and Saunders, 2003), are currently being considered.…”

Section: Geneticsmentioning

confidence: 99%