Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities

Ma, Jinlong; Qin, Yingying; Liu, Wen; Duan, Hua; Xia, Mingdi; Chen, Zi‐Jiang

doi:10.1016/j.fertnstert.2011.04.074

Cited by 23 publications

(15 citation statements)

References 22 publications

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“…Mice with deletion of Pbx1 in the lung mesenchyme can provide an animal model to study the mechanisms that underlies RDS. Recently, two single nucleotide genetic mutations in PBX1 were observed in women with Mullerian duct abnormalities (Ma et al, 2011). It will be interesting for future investigations to determine whether PBX1 mutations could also underlie RDS in some patients.…”

Section: Discussionmentioning

confidence: 99%

Pbx1 activates Fgf10 in the mesenchyme of developing lungs

Lin

Shang

et al. 2014

Genesis

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Summary: Insufficiency of surfactants is a core factor in respiratory distress syndrome, which causes apnea and neonatal death, particularly in preterm infants. Surfactant proteins are secreted by alveolar type II cells in the lung epithelium, the differentiation of which is regulated by Fgf10 elaborated by the adjacent mesenchyme. However, the molecular regulation of mesenchymal Fgf10 during lung development has not been fully understood. Here, we show that Pbx1, a homeodomain transcription factor, is required in the lung mesenchyme for the expression of Fgf10. Mouse embryos lacking Pbx1 in the lung mesenchyme show compact terminal saccules and perinatal lethality with failure of postnatal alveolar expansion. Mutant embryos had severely reduced expression of Fgf10 and surfactant genes (Spa, Spb, Spc, and Spd) that are essential for alveolar expansion for gas exchange at birth. Molecularly, Pbx1 directly binds to the Fgf10 promoter and cooperates with Meis and Hox proteins to transcriptionally activate Fgf10. Our results thus show how Pbx1 controls Fgf10 in the developing lung. genesis 52:399-407, 2014. V C 2014 Wiley Periodicals, Inc.

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Section: Discussionmentioning

confidence: 99%

Pbx1 activates Fgf10 in the mesenchyme of developing lungs

Lin

Shang

et al. 2014

Genesis

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“…Previous studies have reported that 1% to 3% of infertile patients have evidence of uterine abnormalities (20,21). Several hypotheses for the mechanisms of MDAs have been proposed, but the majority of cases are considered to be idiopathic (22,23). M€ ullerian duct abnormalities are considered to be complex genetic conditions affected by multiple genes.…”

Section: Discussionmentioning

confidence: 99%

Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities

Dang

Qin

Tang

et al. 2012

Fertility and Sterility

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“…Other candidate genes which have been investigated include PBX1, WNT7A, and LHX1. However, none have been linked with incomplete Müllerian fusion [77][78][79]. Some candidate genetic mutations have been reported in association with incomplete Müllerian fusion, but further research is needed as much is still unknown.…”

Section: Incomplete Müllerian Fusionmentioning

confidence: 99%

“…Notably, despite the association between MRKH with both galactosemia and cystic fibrosis, studies found no link between mutations in GALT and CFTR genes and the MRKH phenotype [87,88]. Investigations into Hoxa10, Hoxa11, and analysis of PBX1, a cofactor of HOX genes, have failed to determine a cause of Müllerian aplasia [74,78]. Subsets of MRKH, especially cases associated with genetic syndromes, have been attributed to specific genetic etiologies.…”

Section: Müllerian Aplasiamentioning

confidence: 99%

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

Owen¹,

JH²

2013

J Genet Syndr Gene Ther

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Müllerian and vaginal anomalies are congenital malformations of the female reproductive tract resulting from alterations in the normal developmental pathway of the uterus, cervix, fallopian tubes, and vagina. The most common of the Müllerian anomalies affect the uterus and may adversely impact reproductive outcomes highlighting the importance of gaining understanding of the genetic mechanisms that govern normal and abnormal development of the female reproductive tract. Modern molecular genetics with study of knock out animal models as well as several genetic syndromes featuring abnormalities of the female reproductive tract have identified candidate genes significant to this developmental pathway. Further emphasizing the importance of understanding female reproductive tract development, recent evidence has demonstrated expression of embryologically significant genes in the endometrium of adult mice and humans. This recent work suggests that these genes not only play a role in the proper structural development of the female reproductive tract but also may persist in adults to regulate proper function of the endometrium of the uterus. As endometrial function is critical for successful implantation and pregnancy maintenance, these recent data suggest a target for gene therapy. Future research will be needed to determine if gene therapy may improve reproductive outcomes for patients with demonstrated deficient endometrial expression related to abnormal gene expression.

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Analysis of PBX1 mutations in 192 Chinese women with Müllerian duct abnormalities

Cited by 23 publications

References 22 publications

Pbx1 activates Fgf10 in the mesenchyme of developing lungs

Pbx1 activates Fgf10 in the mesenchyme of developing lungs

Variants of the WNT7A gene in Chinese patients with müllerian duct abnormalities

Genetic Syndromes and Genes Involved in the Development of the Female Reproductive Tract: A Possible Role for Gene Therapy

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