当前位置： SCI文献检索 > Clinical Epigenetics期刊下所有文献 > High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting.

High-resolution analysis of germ cells from men with sex chromosomal aneuploidies reveals normal transcriptome but impaired imprinting.

Abstract：

BACKGROUND:The most common sex chromosomal aneuploidy in males is Klinefelter syndrome, which is characterized by at least one supernumerary X chromosome. While these men have long been considered infertile, focal spermatogenesis can be observed in some patients, and sperm can be surgically retrieved and used for artificial reproductive techniques. Although these gametes can be used for fertility treatments, little is known about the molecular biology of the germline in Klinefelter men. Specifically, it is unclear if germ cells in Klinefelter syndrome correctly establish the androgenetic DNA methylation profile and transcriptome. This is due to the low number of germ cells in the Klinefelter testes available for analysis. RESULTS:Here, we overcame these difficulties and successfully investigated the epigenetic and transcriptional profiles of germ cells in Klinefelter patients employing deep bisulfite sequencing and single-cell RNA sequencing. On the transcriptional level, the germ cells from Klinefelter men clustered together with the differentiation stages of normal spermatogenesis. Klinefelter germ cells showed a normal DNA methylation profile of selected germ cell-specific markers compared with spermatogonia and sperm from men with normal spermatogenesis. However, germ cells from Klinefelter patients showed variations in the DNA methylation of imprinted regions. CONCLUSIONS:These data indicate that Klinefelter germ cells have a normal transcriptome but might present aberrant imprinting, showing impairment in germ cell development that goes beyond mere germ cell loss.

journal_name

Clin Epigenetics

journal_title

Clinical epigenetics

authors

Laurentino S,Heckmann L,Di Persio S,Li X,Meyer Zu Hörste G,Wistuba J,Cremers JF,Gromoll J,Kliesch S,Schlatt S,Neuhaus N

doi

10.1186/s13148-019-0720-3

subject

Has Abstract

pub_date

2019-08-28 00:00:00

pages

127

issue

1

eissn

1868-7075

issn

1868-7083

pii

10.1186/s13148-019-0720-3

journal_volume

11

pub_type

杂志文章

相关文献

Clinical Epigenetics文献大全
  • DNA methylation modules associate with incident cardiovascular disease and cumulative risk factor exposure.

    abstract：BACKGROUND:Epigenome-wide association studies using DNA methylation have the potential to uncover novel biomarkers and mechanisms of cardiovascular disease (CVD) risk. However, the direction of causation for these associations is not always clear, and investigations to-date have often failed to replicate at the level o...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-019-0705-2

    authors： Westerman K,Sebastiani P,Jacques P,Liu S,DeMeo D,Ordovás JM

    更新日期：2019-10-15 00:00:00

  • RFX1 downregulation contributes to TLR4 overexpression in CD14+ monocytes via epigenetic mechanisms in coronary artery disease.

    abstract：BACKGROUND:Toll-like receptor 4 (TLR4) expression is increased in activated monocytes, which play a critical role in the pathogenesis of coronary artery disease (CAD). However, the mechanism remains unclear. Regulatory factor X1 (RFX1) is a critical transcription factor regulating epigenetic modifications. In this stud...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-019-0646-9

    authors： Du P,Gao K,Cao Y,Yang S,Wang Y,Guo R,Zhao M,Jia S

    更新日期：2019-03-11 00:00:00

  • Endurance training remodels sperm-borne small RNA expression and methylation at neurological gene hotspots.

    abstract：:Remodeling of the sperm epigenome by lifestyle factors before conception could account for altered metabolism in the next generation offspring. Here, we hypothesized that endurance training changes the epigenome of human spermatozoa. Using small RNA (sRNA) sequencing and reduced representation bisulfite sequencing (RR...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0446-7

    authors： Ingerslev LR,Donkin I,Fabre O,Versteyhe S,Mechta M,Pattamaprapanont P,Mortensen B,Krarup NT,Barrès R

    更新日期：2018-01-25 00:00:00

  • Association of DNA methylation with age, gender, and smoking in an Arab population.

    abstract：BACKGROUND:Modification of DNA by methylation of cytosines at CpG dinucleotides is a widespread phenomenon that leads to changes in gene expression, thereby influencing and regulating many biological processes. Recent technical advances in the genome-wide determination of single-base DNA-methylation enabled epigenome-w...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-014-0040-6

    authors： Zaghlool SB,Al-Shafai M,Al Muftah WA,Kumar P,Falchi M,Suhre K

    更新日期：2015-01-22 00:00:00

  • Differences in DNA methylation profile of Th1 and Th2 cytokine genes are associated with tolerance acquisition in children with IgE-mediated cow's milk allergy.

    abstract：BACKGROUND:Epigenetic changes in DNA methylation could regulate the expression of several allergy-related genes. We investigated whether tolerance acquisition in children with immunoglobulin E (IgE)-mediated cow's milk allergy (CMA) is characterized by a specific DNA methylation profile of Th2 (IL-4, IL-5) and Th1 (IL-...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-015-0070-8

    authors： Berni Canani R,Paparo L,Nocerino R,Cosenza L,Pezzella V,Di Costanzo M,Capasso M,Del Monaco V,D'Argenio V,Greco L,Salvatore F

    更新日期：2015-03-31 00:00:00

  • Aberrant DNA methylation and expression of SPDEF and FOXA2 in airway epithelium of patients with COPD.

    abstract：BACKGROUND:Goblet cell metaplasia, a common feature of chronic obstructive pulmonary disease (COPD), is associated with mucus hypersecretion which contributes to the morbidity and mortality among patients. Transcription factors SAM-pointed domain-containing Ets-like factor (SPDEF) and forkhead box protein A2 (FOXA2) re...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-017-0341-7

    authors： Song J,Heijink IH,Kistemaker LEM,Reinders-Luinge M,Kooistra W,Noordhoek JA,Gosens R,Brandsma CA,Timens W,Hiemstra PS,Rots MG,Hylkema MN

    更新日期：2017-04-24 00:00:00

  • Pulmonary microRNA profiling: implications in upper lobe predominant lung disease.

    abstract：BACKGROUND:Numerous pulmonary diseases manifest with upper lobe predominance including cystic fibrosis, smoking-related chronic obstructive pulmonary disease, and tuberculosis. Zonal hypoxia, characteristic of these pulmonary maladies, and oxygen stress in general is known to exert profound effects on various important...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-017-0355-1

    authors： Armstrong DA,Nymon AB,Ringelberg CS,Lesseur C,Hazlett HF,Howard L,Marsit CJ,Ashare A

    更新日期：2017-05-30 00:00:00

  • Exploring the unique function of imprinting control centers in the PWS/AS-responsible region: finding from array-based methylation analysis in cases with variously sized microdeletions.

    abstract：BACKGROUND:Human 15q11-13 is responsible for Prader-Willi syndrome (PWS) and Angelman syndrome (AS) and includes several imprinted genes together with bipartite elements named AS-IC (imprinting center) and PWS-IC. These concertedly confer allele specificity on 15q11-13. Here, we report DNA methylation status of 15q11-1...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-019-0633-1

    authors： Matsubara K,Itoh M,Shimizu K,Saito S,Enomoto K,Nakabayashi K,Hata K,Kurosawa K,Ogata T,Fukami M,Kagami M

    更新日期：2019-02-28 00:00:00

  • Changes in DNA methylation at the aryl hydrocarbon receptor repressor may be a new biomarker for smoking.

    abstract：BACKGROUND:Smoking is the largest preventable cause of morbidity and mortality in the United States. In previous work, we demonstrated that altered DNA methylation at the aryl hydrocarbon receptor repressor (AHRR) is correlated with self-reported smoking in 19-year-old African Americans with relatively low levels of sm...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/1868-7083-5-19

    authors： Philibert RA,Beach SR,Lei MK,Brody GH

    更新日期：2013-10-11 00:00:00

  • Integrative DNA methylome analysis of pan-cancer biomarkers in cancer discordant monozygotic twin-pairs.

    abstract：BACKGROUND:A key focus in cancer research is the discovery of biomarkers that accurately diagnose early lesions in non-invasive tissues. Several studies have identified malignancy-associated DNA methylation changes in blood, yet no general cancer biomarker has been identified to date. Here, we explore the potential of ...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-016-0172-y

    authors： Roos L,van Dongen J,Bell CG,Burri A,Deloukas P,Boomsma DI,Spector TD,Bell JT

    更新日期：2016-01-20 00:00:00

  • Epigenetic analyses in blood cells of men suspected of prostate cancer predict the outcome of biopsy better than serum PSA levels.

    abstract：:Lymphocytes from the peripheral blood of patients with prostate cancer-the most frequent (noncutaneous) tumor in men-display epigenetic aberrations (altered modes of allelic replication) characteristic of the malignant phenotype. The present study aims to determine whether replication aberrations add certainty to the ...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1007/s13148-011-0029-3

    authors： Cytron S,Stepnov E,Bounkin I,Mashevich M,Dotan A,Avivi L

    更新日期：2011-08-01 00:00:00

  • Analysis of two birth tissues provides new insights into the epigenetic landscape of neonates born preterm.

    abstract：BACKGROUND:Preterm birth (PTB), defined as child birth before completion of 37 weeks of gestation, is a major challenge in perinatal health care and can bear long-term medical and financial burden. Over a million children die each year due to PTB complications, and those who survive can face developmental delays. Unfor...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0599-4

    authors： Wu Y,Lin X,Lim IY,Chen L,Teh AL,MacIsaac JL,Tan KH,Kobor MS,Chong YS,Gluckman PD,Karnani N

    更新日期：2019-02-11 00:00:00

  • Epigenetic clocks for gestational age: statistical and study design considerations.

    abstract：:In this letter to the editor, we highlight some concerns with a recently published method to estimate gestational age at delivery from DNA methylation data. We conduct novel analyses to highlight the implications of different choices in study design and statistical methods for the prediction of phenotypes from methyla...

    journal_title：Clinical epigenetics

    pub_type： 信件

    doi：10.1186/s13148-017-0402-y

    authors： Simpkin AJ,Suderman M,Howe LD

    更新日期：2017-09-15 00:00:00

  • Genome-scale hypomethylation in the cord blood DNAs associated with early onset preeclampsia.

    abstract：BACKGROUND:Preeclampsia is one of the leading causes of fetal and maternal morbidity and mortality worldwide. Preterm babies of mothers with early onset preeclampsia (EOPE) are at higher risks for various diseases later on in life, including cardiovascular diseases. We hypothesized that genome-wide epigenetic alteratio...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-015-0052-x

    authors： Ching T,Ha J,Song MA,Tiirikainen M,Molnar J,Berry MJ,Towner D,Garmire LX

    更新日期：2015-03-13 00:00:00

  • Histone deacetylase inhibitors potentiate photodynamic therapy in colon cancer cells marked by chromatin-mediated epigenetic regulation of CDKN1A.

    abstract：BACKGROUND:Hypericin-mediated photodynamic therapy (HY-PDT) has recently captured increased attention as an alternative minimally invasive anticancer treatment, although cancer cells may acquire resistance. Therefore, combination treatments may be necessary to enhance HY-PDT efficacy. Histone deacetylase inhibitors (HD...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-017-0359-x

    authors： Halaburková A,Jendželovský R,Kovaľ J,Herceg Z,Fedoročko P,Ghantous A

    更新日期：2017-06-08 00:00:00

  • Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosis.

    abstract：BACKGROUND:Mitochondrial dysregulation and aberrant epigenetic mechanisms have been frequently reported in neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), and several researchers suggested that epigenetic dysregulation in mitochondrial DNA (mtDNA) could contribute to the neurodegenerative pro...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-020-00933-2

    authors： Stoccoro A,Smith AR,Mosca L,Marocchi A,Gerardi F,Lunetta C,Cereda C,Gagliardi S,Lunnon K,Migliore L,Coppedè F

    更新日期：2020-09-11 00:00:00

  • RRx-001, an epigenetic-based radio- and chemosensitizer, has vascular normalizing effects on SCCVII and U87 tumors.

    abstract：BACKGROUND:The tumor-specific microregional effects of the anticancer agent RRx-001, a novel epigenetic-based radio/chemosensitizer with nitrogen oxide-donating properties in phase II clinical trials, were investigated with whole tissue section quantitative immunohistological staining in mouse SCCVII and human U87 tumo...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-016-0220-7

    authors： Oronsky B,Scicinski J,Cabrales P,Minchinton A

    更新日期：2016-05-11 00:00:00

  • Maternal diabetes and obesity influence the fetal epigenome in a largely Hispanic population.

    abstract：BACKGROUND:Obesity and diabetes mellitus are directly implicated in many adverse health consequences in adults as well as in the offspring of obese and diabetic mothers. Hispanic Americans are particularly at risk for obesity, diabetes, and end-stage renal disease. Maternal obesity and/or diabetes through prenatal prog...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-020-0824-9

    authors： Rizzo HE,Escaname EN,Alana NB,Lavender E,Gelfond J,Fernandez R,Hibbs MA,King JM,Carr NR,Blanco CL

    更新日期：2020-02-19 00:00:00

  • Epigenomic profiling of archived FFPE tissues by enhanced PAT-ChIP (EPAT-ChIP) technology.

    abstract：BACKGROUND:The introduction of pathology tissue-chromatin immunoprecipitation (PAT-ChIP), a technique allowing chromatin immunoprecipitation (ChIP) from formalin-fixed paraffin-embedded (FFPE) tissues, has extended the application of chromatin studies to clinical patient samples. However, extensive crosslinking introdu...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0576-y

    authors： Amatori S,Persico G,Paolicelli C,Hillje R,Sahnane N,Corini F,Furlan D,Luzi L,Minucci S,Giorgio M,Pelicci PG,Fanelli M

    更新日期：2018-11-16 00:00:00

  • Genome-wide microRNA expression profiling in placentae from frozen-thawed blastocyst transfer.

    abstract：BACKGROUND:Frozen-thawed embryo transfer (FET) is increasingly available for the improvement of the success rate of assisted reproductive technologies other than fresh embryo transfer (ET). There have been numerous findings that FET provides better obstetric and perinatal outcomes. However, the birth weight of infants ...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-017-0379-6

    authors： Hiura H,Hattori H,Kobayashi N,Okae H,Chiba H,Miyauchi N,Kitamura A,Kikuchi H,Yoshida H,Arima T

    更新日期：2017-08-03 00:00:00

  • Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health.

    abstract：BACKGROUND:Tobacco smoking is a risk factor for multiple diseases, including cardiovascular disease and diabetes. Many smoking-associated signals have been detected in the blood methylome, but the extent to which these changes are widespread to metabolically relevant tissues, and impact gene expression or metabolic hea...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0558-0

    authors： Tsai PC,Glastonbury CA,Eliot MN,Bollepalli S,Yet I,Castillo-Fernandez JE,Carnero-Montoro E,Hardiman T,Martin TC,Vickers A,Mangino M,Ward K,Pietiläinen KH,Deloukas P,Spector TD,Viñuela A,Loucks EB,Ollikainen M,Kelsey K

    更新日期：2018-10-20 00:00:00

  • Evaluation of a methylation classifier for predicting pre-cancer lesion among women with abnormal results between HPV16/18 and cytology.

    abstract：BACKGROUND:Although HPV testing and cytology detection are successful for cervical screening in China, additional procedures are urgently required to avoid misdiagnosis and overtreatment. In this multicenter study, we collected cervical samples during screening in clinics. A total of 588 women with HPV16/18+ and/or cyt...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-020-00849-x

    authors： Gu YY,Zhou GN,Wang Q,Ding JX,Hua KQ

    更新日期：2020-04-21 00:00:00

  • Gene domain-specific DNA methylation episignatures highlight distinct molecular entities of ADNP syndrome.

    abstract：BACKGROUND:ADNP syndrome is a rare Mendelian disorder characterized by global developmental delay, intellectual disability, and autism. It is caused by truncating mutations in ADNP, which is involved in chromatin regulation. We hypothesized that the disruption of chromatin regulation might result in specific DNA methyl...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-019-0658-5

    authors： Bend EG,Aref-Eshghi E,Everman DB,Rogers RC,Cathey SS,Prijoles EJ,Lyons MJ,Davis H,Clarkson K,Gripp KW,Li D,Bhoj E,Zackai E,Mark P,Hakonarson H,Demmer LA,Levy MA,Kerkhof J,Stuart A,Rodenhiser D,Friez MJ,Stevenson

    更新日期：2019-04-27 00:00:00

  • Epigenetic associations of type 2 diabetes and BMI in an Arab population.

    abstract：BACKGROUND:The prevalence of type 2 diabetes (T2D) and obesity has dramatically increased within a few generations, reaching epidemic levels. In addition to genetic risk factors, epigenetic mechanisms triggered by changing environment are investigated for their role in the pathogenesis of these complex diseases. Epigen...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-016-0177-6

    authors： Al Muftah WA,Al-Shafai M,Zaghlool SB,Visconti A,Tsai PC,Kumar P,Spector T,Bell J,Falchi M,Suhre K

    更新日期：2016-01-28 00:00:00

  • Racial differences in IGF1 methylation and birth weight.

    abstract：BACKGROUND:The birth weight of Black neonates in the United States is consistently smaller than that of their White counterparts. Epigenetic differences between the races may be involved in such disparities. The goal of these analyses was to model the role of IGF1 methylation in mediating the association between race a...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-015-0080-6

    authors： Straughen JK,Sipahi L,Uddin M,Misra DP,Misra VK

    更新日期：2015-04-21 00:00:00

  • Epigenetic suppression of E-cadherin expression by Snail2 during the metastasis of colorectal cancer.

    abstract：BACKGROUND:The transcription factor Snail2 is a repressor of E-cadherin expression during carcinogenesis; however, the specific mechanisms involved in this process in human colorectal cancer (CRC) remain largely unknown. METHOD:We checked the expression of Snail2 in several clinical CRC specimens. Then, we established...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0592-y

    authors： Hu Y,Dai M,Zheng Y,Wu J,Yu B,Zhang H,Kong W,Wu H,Yu X

    更新日期：2018-12-12 00:00:00

  • Differentially methylated loci in NAFLD cirrhosis are associated with key signaling pathways.

    abstract：:Altered DNA methylation events contribute to the pathogenesis and progression of metabolic disorders, including nonalcoholic fatty liver disease (NAFLD). Investigations of global DNA methylation patterns in liver biopsies representing severe NAFLD fibrosis have been limited. We used the HumanMethylation 450K BeadChip ...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0525-9

    authors： Gerhard GS,Malenica I,Llaci L,Chu X,Petrick AT,Still CD,DiStefano JK

    更新日期：2018-07-13 00:00:00

  • Exposure and fetal growth-associated miRNA alterations in the human placenta.

    abstract：:Researchers have begun to examine epigenetic alterations in the placenta, making key advances in understanding the epigenetic regulatory mechanisms of the placenta that define underlying processes of human development and disease. Examining changes in microRNA (miRNA) expression associated with environmental exposures...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1007/s13148-011-0046-2

    authors： Maccani MA,Marsit CJ

    更新日期：2011-08-01 00:00:00

  • The tumor suppressor Zinc finger protein 471 suppresses breast cancer growth and metastasis through inhibiting AKT and Wnt/β-catenin signaling.

    abstract：BACKGROUND:Zinc-finger protein 471 (ZNF471) is a member of the Krüppel-associated box domain zinc finger protein (KRAB-ZFP) family. ZNF471 is methylated in squamous cell carcinomas of tongue, stomach and esophageal. However, its role in breast carcinogenesis remains elusive. Here, we studied its expression, functions, ...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-020-00959-6

    authors： Tao C,Luo J,Tang J,Zhou D,Feng S,Qiu Z,Putti TC,Xiang T,Tao Q,Li L,Ren G

    更新日期：2020-11-17 00:00:00

  • DNA methylation and socioeconomic status in a Mexican-American birth cohort.

    abstract：Background:Maternal social environmental stressors during pregnancy are associated with adverse birth and child developmental outcomes, and epigenetics has been proposed as a possible mechanism for such relationships. Methods:In a Mexican-American birth cohort of 241 maternal-infant pairs, cord blood samples were meas...

    journal_title：Clinical epigenetics

    pub_type： 杂志文章

    doi：10.1186/s13148-018-0494-z

    authors： Coker ES,Gunier R,Huen K,Holland N,Eskenazi B

    更新日期：2018-05-08 00:00:00