Aberrant methylation at HOXA10 may be responsible for its aberrant expression in the endometrium of patients with endometriosis

Wu, Yan; Halverson, Gloria; Basir, Zainab; Strawn, Estil; Yan, Pearlly S.; Guo, Sun‐Wei

doi:10.1016/j.ajog.2005.01.034

Cited by 254 publications

(211 citation statements)

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“…In both murine and baboon endometriosis models, hypermethylation of the promoter region of Hoxa10/HOXA10 and decreased expression of Hoxa10/HOXA10 genes were shown in eutopic endometrium (Kim et al 2007;Lee et al 2009). In humans, hypermethylation of HOXA10 was identified in the endometrium of women with endometriosis (Wu et al 2005). The DNA methyltransferase (DNMT) is a family of enzymes, which catalyze the transfer of a methyl group to DNA.…”

Section: Hox Genes and Endometriosismentioning

confidence: 99%

The Role ofHoxGenes in Female Reproductive Tract Development, Adult Function, and Fertility

Taylor

2015

Cold Spring Harb Perspect Med

185

151

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HOX genes convey positional identity that leads to the proper partitioning and adult identity of the female reproductive track. Abnormalities in reproductive tract development can be caused by HOX gene mutations or altered HOX gene expression. Diethylstilbestrol (DES) and other endocrine disruptors cause Mü llerian defects by changing HOX gene expression. HOX genes are also essential regulators of adult endometrial development. Regulated HOXA10 and HOXA11 expression is necessary for endometrial receptivity; decreased HOXA10 or HOXA11 expression leads to decreased implantation rates. Alternation of HOXA10 and HOXA11 expression has been identified as a mechanism of the decreased implantation associated with endometriosis, polycystic ovarian syndrome, leiomyoma, polyps, adenomyosis, and hydrosalpinx. Alteration of HOX gene expression causes both uterine developmental abnormalities and impaired adult endometrial development that prevent implantation and lead to female infertility.

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Section: Hox Genes and Endometriosismentioning

confidence: 99%

The Role ofHoxGenes in Female Reproductive Tract Development, Adult Function, and Fertility

Taylor

2015

Cold Spring Harb Perspect Med

185

151

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“…Disorders of the expression of pinopode cause disruptions in the process of apposition and disruption on the expression of ITGAVB3 that cause disruptions of the adhesion and invasion process. Disorders of HOXA10 expression can be caused by polymorphisms, mutations or methylation (Wu et al, 2005;Kim et al, 2007;Wu et al, 2008).…”

Section: Discussionmentioning

confidence: 99%

“…The inhibition of HOXA10 expression would dramatically reduce the number of pinopodes (Lee and Mayo, 2004;Achache and Revel, 2006). A slight decrease of HOXA10 expression is seen in luminal area, glands, and endothelium, but is reduced signifi cantly in the area of endometrial stromal endometriosis (Gui et al, 1999;Wu et al, 2005;Matsuzaki et al, 2009). HOXA10 expression decreases in the endometrium's endometriosis and followed by a defect in the expression of the target of HOXA10 gene such as EMX-2 and B3 integrin (Bagot et al, 2000;Daftary et al, 2002).…”

Section: Introductionmentioning

confidence: 99%

“…Increasing estradiol in endometrium can interfere with the implantation process in which blastocysts are anatomically and physiologically invading the uterine wall (Bulun et al, 2000;Huhtinen, 2010). The process of implantation requires the synchronized of conceptus development and endometrial receptivity, initiated by the process of apposition, adhesion and invasion followed by the transformation of endometrium into decidual until the formation of the placenta (Wu et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

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A Novel Variant of HOXA10 gene, Ser19Cys, among Patients with Endometriosis and its Relationship with the Severity of the Disease

Hutajulu¹,

Dasuki

Sadewa

et al. 2015

IJBiotech

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Endometriosis is a gynecological disease associated with inherited genetic traits. HOXA10 gene which is expressed in uterine plays an important role in the pathogenesis of endometriosis. The protein affects the development of pinopodes as a biomarker of endometrial receptivity in endometriosis.The aim of this study is to examine if there is a mutation or polymorphism within HOXA10 gene among patients with endometriosis. Thirty twopatients and 32 healthy women were recruited as subjects of this study. The exon 2 of HOXA10 which covers most of coding region was amplifi ed using PCR. The presence of a mutation or polymorphism was detected by direct seguencing. The distribution of genotype and allele was analyzed using Chi square test with p<0.05 is considered as signifi cantly different. A novel heterozygous variant within exon 2 of HOXA10 which substitute an adenine into thymine was detected at base position 55. This missense alteration changed amino acid serine to cystein (Ser19Cys). Interestingly, this variant was detected in 12 endometriosis cases (38%) but none in control. Patients carry HOXA10 Ser19Cys variant were associated with dismenorea and more frequent in stage I endometriosis. The role of this variant in the function of HOXA10 protein and frequency among Indonesians need to be clarifi ed. We found a novel heterozygous HOXA10 gene variant, Ser19Cys.The genotype frequency is 38% among endometriosis patients but none in control. This variant found in patient with dismenore and endometriosis stage 1.

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“…Hosszabb ideje ismert, hogy e gén a menstruációs ciklus során az endometriumszövet felépülésében, illetve az esetleges beágyazódás endometrialis feltételeinek kialakításában kitüntetett szereppel rendelkezik [37]. Endometriosisban szenvedő nők szövetmintájában a HOXA10-gén promoterrégiójának hipermetilációját mutatták ki, ami a génműködés csökkenéséhez/kieséséhez vezet [38]. E jelenség egyébként endometriosisban szenvedő majmok és egerek esetén szintén kimutatható volt.…”

Section: Epigenetikai Mechanizmusok Az Endometriosis Kialakulásának Hunclassified

Epigenetic background of the most common non-oncologic gynecological diseases

et al. 2014

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Az epigenetikai mechanizmusok az alapvető életfolyamatok irányításában részt vevő gének működésére gyakorolnak hatást. E környezeti tényezők némelyike képes a génműködés megváltoztatására vagy kiiktatására. A környezet génaktivitásra gyakorolt, örökölhető fenotípus-változásokat eredményező hatásai a kromatinban úgynevezett epigenetikus jelzéseket hoznak létre, amelyek a DNS kémiai módosulását okozzák. A szülészet-nőgyógyászatban számos olyan terhespatológiai, onkológiai és nem daganatos nőgyógyászati kórkép van, amelyek kialakulásában az epigenetikai mechanizmusok fontos szerepet játszanak. A leiomyoma uteri számos etiológiai tényező együttállása esetén alakul ki, ezért hátterében egy feltehetően komplexebb epigenetikai szabályozórendszer jelenléte valószínűsíthető. Az endometriosis multifaktoriális kóreredete immunológiai és hormonális kóroki tényezők szerepét valószínűsíti. Ezek hatásmechanizmusának minél részletesebb génszintű ismerete jelent(ene) lehetőséget az érvényre jutó epigenetikai mechanizmusok azonosítására, illetve -a későbbiekben -hatásuk kiküszöbölésére. A polycystás ovarium szindróma vonatkozásában az epigenetikai kutatások irányát meghatározza a valószínűsíthető in utero eredet, amely mind a prekoncepcionális, mind a terhesgondozás során a megelőzés és a kezelés lehetőségeit kínálhatja. Orv. Hetil., 2014, 155(13), 492-499. Kulcsszavak: epigenetika, DNS-metiláció, endometriosis, PCOS, leiomyoma uteri, miRNS Epigenetic background of the most common non-oncologic gynecological diseasesEpigenetic effects infl uence the function of genes regulating the main physiological mechanisms. Some of these environmental factors may reduce or inhibit the function of these genes. The environmental effects on gene function may result in a change of the DNA structure leading to non-heritable phenotype changes. Epigenetic factors play an important etiological role in the development of numerous diseases in obstetrics and gynecology. Uterine fi broids probably have a complex etiological background including epigenetic mechanisms. The multifactorial aetiology of endometriosis suggests key roles for immunological and hormonal factors in the development of the diseases. These mechanisms are infl uenced by epigenetic factors, which may serve as therapeutic targets in the future. The possible in utero origin of polycystic ovary syndrome determines the main directions of research concerning epigenetic factors in the etiological background, with the hope of eventual prevention and/or treatment in the preconceptional period as well as during pregnancy care.

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Aberrant methylation at HOXA10 may be responsible for its aberrant expression in the endometrium of patients with endometriosis

Cited by 254 publications

References 33 publications

The Role ofHoxGenes in Female Reproductive Tract Development, Adult Function, and Fertility

The Role ofHoxGenes in Female Reproductive Tract Development, Adult Function, and Fertility

A Novel Variant of HOXA10 gene, Ser19Cys, among Patients with Endometriosis and its Relationship with the Severity of the Disease

Epigenetic background of the most common non-oncologic gynecological diseases

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