What microRNAs could tell us about the human X chromosome

Palo, Armando Di; Siniscalchi, Chiara; Salerno, Mariacarolina; Gravholt, Claus Højbjerg; Potenza, Nicoletta

doi:10.1007/s00018-020-03526-7

Cited by 56 publications

(50 citation statements)

References 87 publications

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“…The miRNA expression profiles in first and third trimester have similar chromosome distributions, with expected peaks at chromosomes 14 and 19, as well as peaks at chromosome 1, the largest human chromosome and chromosome X, which has a higher density of miRNAs compared to autosomes. 61,62 The most highly expressed miRNA, hsa-miR-126-3p, was upregulated in third trimester, and was validated with qRT-PCR using an independent cohort. In a recent study comparing first and second trimester placenta, miR-126-3p was identified to be among the 10 most highly expressed miRNAs and identified in maternal plasma.…”

Section: Discussionmentioning

confidence: 94%

High-throughput miRNA-sequencing of the human placenta: expression throughout gestation

Gonzalez

Eisman

Joshi

et al. 2021

Preprint

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BackgroundAltered placenta miRNA abundance may impact the maternal-fetal interface and pregnancy outcomes. Understanding miRNA changes across gestation is essential before miRNAs can be used as biomarkers or prognostic indicators during pregnancy.Materials & MethodsUsing next-generation sequencing, we characterize the normative human placenta miRNA transcriptome in first (N=113) and third trimester (N=47).ResultsThere are 801 miRNAs expressed in both first and third trimester, including 182 with similar expression across gestation (P≥0.05) and 182 significantly different (FDR<0.05). Of placenta-specific miRNA clusters, C14MC is more upregulated in first trimester and C19MC is more highly expressed overall.ConclusionThis work provides a rich atlas of healthy pregnancies to direct functional studies investigating the epigenetic differences in first and third trimester placentae.Lay AbstractThe human body produces microRNAs which affect the expression of genes and proteins. This study uses next generation sequencing to identify the microRNA profile of first and third trimester human placentae using a large cohort (N=113 first, N=47 third trimester). All pregnancies resulted in healthy babies. We identify microRNAs with significantly different expression between first and third trimester, as well as stably expressed microRNAs. This work provides a baseline for future studies which may use microRNAs to monitor maternal-fetal health throughout pregnancy.

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Section: Discussionmentioning

confidence: 94%

High-throughput miRNA-sequencing of the human placenta: expression throughout gestation

Gonzalez

Eisman

Joshi

et al. 2021

Preprint

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“…In fact, estradiol has been proven to alter the expression of AGO, Drosha, and Dicer [21]. Surprisingly, despite genomic distribution analysis showing that the human X chromosome has a higher density of miRNAs compared to autosomes and the Y-chromosome [22,23], no literature data are currently available on sex-chromosome-related microRNAs implicated in NDs.…”

Section: Micrornas In the Brain: From Function To Gender Differencesmentioning

confidence: 99%

A Sex Perspective in Neurodegenerative Diseases: microRNAs as Possible Peripheral Biomarkers

Bellenghi

Manzini

Crestini

et al. 2021

IJMS

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Sex is a significant variable in the prevalence and incidence of neurological disorders. Sex differences exist in neurodegenerative disorders (NDs), where sex dimorphisms play important roles in the development and progression of Alzheimer’s disease, Parkinson’s disease, and amyotrophic lateral sclerosis. In the last few years, some sex specific biomarkers for the identification of NDs have been described and recent studies have suggested that microRNA (miRNA) could be included among these, as influenced by the hormonal and genetic background. Failing to consider the possible differences between males and females in miRNA evaluation could introduce a sex bias in studies by not considering some of these sex-related biomarkers. In this review, we recapitulate what is known about the sex-specific differences in peripheral miRNA levels in neurodegenerative diseases. Several studies have reported sex-linked disparities, and from the literature analysis miR-206 particularly has been shown to have a sex-specific involvement. Hopefully, in the near future, patient stratification will provide important additional clues in diagnosis, prognosis, and tailoring of the best therapeutic approaches for each patient. Sex-specific biomarkers, such as miRNAs, could represent a useful tool for characterizing subgroups of patients.

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“…Therefore, discordance between cyst burden and renal function decline trajectories that could be explained by lower cyst growth and remarkably slowed kidney enlargement in this ADPKD patient. In the present study, it was hypothesized that coexisting ADPKD with masked KS and GS may have a synergistic effect on the stimulation of rapid evolution to ESRD, and their synergistic effect may be the result of regulation of multiple signaling pathways, including vascular disease [ 66 , 67 , 68 , 69 , 70 , 71 , 72 , 73 ] (see Figure 2 ).…”

Section: Discussionmentioning

confidence: 96%

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes

Peces

Mena

et al. 2022

Genes

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Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic hereditary renal disease, promoting end-stage renal disease (ESRD). Klinefelter syndrome (KS) is a consequence of an extra copy of the X chromosome in males. Main symptoms in KS include hypogonadism, tall stature, azoospermia, and a risk of cardiovascular diseases, among others. Gitelman syndrome (GS) is an autosomal recessive disorder caused by SLC12A3 variants, and is associated with hypokalemia, hypomagnesemia, hypocalciuria, normal or low blood pressure, and salt loss. The three disorders have distinct and well-delineated clinical, biochemical, and genetic findings. We here report a male patient with ADPKD who developed early chronic renal failure leading to ESRD, presenting with an intracranial aneurysm and infertility. NGS identified two de novo PKD1 variants, one known (likely pathogenic), and a previously unreported variant of uncertain significance, together with two SLC12A3 pathogenic variants. In addition, cytogenetic analysis showed a 47, XXY karyotype. We investigated the putative impact of this rare association by analyzing possible clinical, biochemical, and/or genetic interactions and by comparing the evolution of renal size and function in the proband with three age-matched ADPKD (by variants in PKD1) cohorts. We hypothesize that the coexistence of these three genetic disorders may act as modifiers with possible synergistic actions that could lead, in our patient, to a rapid ADPKD progression.

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What microRNAs could tell us about the human X chromosome

Cited by 56 publications

References 87 publications

High-throughput miRNA-sequencing of the human placenta: expression throughout gestation

High-throughput miRNA-sequencing of the human placenta: expression throughout gestation

A Sex Perspective in Neurodegenerative Diseases: microRNAs as Possible Peripheral Biomarkers

Rapidly Progressing to ESRD in an Individual with Coexisting ADPKD and Masked Klinefelter and Gitelman Syndromes

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