scholarly journals Evidence of Influence of Genomic DNA Sequence on Human X Chromosome Inactivation

2006 ◽  
Vol 2 (9) ◽  
pp. e113 ◽  
Author(s):  
Zhong Wang ◽  
Huntington F Willard ◽  
Sayan Mukherjee ◽  
Terrence S Furey
Keyword(s):  
Dna Sequence ◽  
X Chromosome ◽  
Genomic Dna ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Genomic Dna Sequence

scholarly journals Evidence of Influence of Genomic DNA Sequence on Human X Chromosome Inactivation

2005 ◽  
Vol preprint (2006) ◽  
pp. e113
Author(s):  
Zhong Wang ◽  
Huntington F Willard ◽  
Sayan Muhkerjee ◽  
Terrence Furey
Keyword(s):  
Dna Sequence ◽  
X Chromosome ◽  
Genomic Dna ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Genomic Dna Sequence

scholarly journals Analysis of X chromosome genomic DNA sequence copy number variation associated with premature ovarian failure (POF)

2010 ◽  
Vol 25 (8) ◽  
pp. 2139-2150 ◽  
Author(s):  
C. R. Quilter ◽  
A. C. Karcanias ◽  
M. R. Bagga ◽  
S. Duncan ◽  
A. Murray ◽  
...  
Keyword(s):  
Copy Number Variation ◽  
Dna Sequence ◽  
X Chromosome ◽  
Premature Ovarian Failure ◽  
Copy Number ◽  
Genomic Dna ◽  
Ovarian Failure ◽  
Number Variation ◽  
Genomic Dna Sequence

Is Hematopoiesis Clonal in Healthy Elderly Females?

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 2223-2223
Author(s):  
Sabina Swierczek# ◽  
Neeraj Agarwal# ◽  
Gerald Rothstein ◽  
Roberto Nussenzveig ◽  
Josef Prchal
Keyword(s):  
Dna Methylation ◽  
X Chromosome ◽  
Genomic Dna ◽  
Elderly Women ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Clonal Population ◽  
Total Rna ◽  
Healthy Elderly ◽  
Age Range

Abstract Clonality studies can establish the single cell origin of tumors and differentiate nonmalignant from malignant states. Detection of clonal cells may be genotype-based relying on somatic mutations to mark the clonal population (e.g. 9q+:22q– translocation in CML), or phenotype-based, where the clonal population is identified by expression of surrogate genes which facilitate tracking the clonal process. Methods for determining phenotypic clonality rely on the principle of X chromosome inactivation (XCIP), unique to women, and are based on differentiating transcriptionally active from inactive X-chromosomal genes. Detection of the polymorphic state of genes subjected to inactivation may be done by either: discrimination of DNA methylation status, detection of mRNA transcripts, or polymorphic isozyme protein products. Extreme skewing of X-chromosome allelic usage by methylation-based clonality assay has been reported in ∼30% of healthy elderly females precluding clonality studies in this population. In contrast, by X-chromosome quantitative transcriptional clonality assay (TCA), we previously reported a normal skewing range based on our determination of random X-chromosome inactivation in 8 progenitors of pluripotent hematopoietic stem cells at the time of inactivation during the blastocyst stage of development (J Exp Med, 183:748, 1996). Moreover, we have not observed clonal XCIP in TCA studies involving over 200 healthy heterozygous females, indicating the rarity of this phenomenon. However, we did not systematically study females >65 years old. Furthermore, our TCA protocol was laborious, technically demanding and required significant amounts of highly radioactive isotopes. In addition, due to susceptibility of DNA methylation to environmental factors we decided to re-investigate the issue of clonality in older females using a novel quantitative real time PCR assay based on a unique primer design, we previously reported for the JAK2V617F mutation (Exp Hematol. 2007;35(1):32–8). Females >65 years of age with no history of malignant disorders, unexplained anemia, or autoimmune disorders were recruited for our IRB approved study. Genomic DNA and total RNA was isolated from peripheral blood granulocytes, reticulocytes, and platelets where applicable. Clonality studies were performed using BTK, FHL1, IDS, G6PD, and MPP1 exonic polymorphisms (∼95% females are informative for at least one marker; Blood101:3294–301, 2003). Genomic DNA was used for genotyping exonic polymorphisms by TaqMan based allelic-discrimination assays. Thirteen elderly females (age range 65–92, mean 75.5, median 75) and 5 younger females (age range 30–40, median 36, mean 35), heterozygous for one or more markers, were identified. TCA was performed using total RNA on markers found to be informative. Neither clonal XCIP, nor extreme skewing XCIP was noted in any of the study subjects. Based on reported data, ∼30% elderly women were found to have extremely skewed XCIP; hence, we expected to find 4/13 elderly women with clonal XCIP in our study group. Statistical analysis, using an exact binomial test, indicates a low probability of false positive results by our assay (p=0.014, exact 95% CI [0,0.22]). In conclusion, hematopoiesis is not clonal in healthy elderly females. #equal contribution.

X-linked CNV and skewed X-chromosome inactivation

2020 ◽  
pp. 19-21
Author(s):  
Е.А. Фонова ◽  
Е.Н. Толмачева ◽  
А.А. Кашеварова ◽  
М.Е. Лопаткина ◽  
К.А. Павлова ◽  
...  
Keyword(s):  
Cell Proliferation ◽  
Intellectual Disability ◽  
X Chromosome ◽  
Copy Number ◽  
Copy Number Variations ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Chromosome X ◽  
Skewed X Chromosome Inactivation

Смещение инактивации Х-хромосомы может быть следствием и маркером нарушения клеточной пролиферации при вариациях числа копий ДНК на Х-хромосоме. Х-сцепленные CNV выявляются как у женщин с невынашиванием беременности и смещением инактивации Х-хромосомы (с частотой 33,3%), так и у пациентов с умственной отсталостью и смещением инактивацией у их матерей (с частотой 40%). A skewed X-chromosome inactivation can be a consequence and a marker of impaired cell proliferation in the presence of copy number variations (CNV) on the X chromosome. X-linked CNVs are detected in women with miscarriages and a skewed X-chromosome inactivation (with a frequency of 33.3%), as well as in patients with intellectual disability and skewed X-chromosome inactivation in their mothers (with a frequency of 40%).

scholarly journals X-Linked Emery–Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Genes ◽  
2019 ◽  
Vol 10 (11) ◽  
pp. 919 ◽  
Author(s):  
Viggiano ◽  
Madej-Pilarczyk ◽  
Carboni ◽  
Picillo ◽  
Ergoli ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
X Chromosome ◽  
Clinical Symptoms ◽  
Fibrous Tissue ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Cardiac Conduction ◽  
Asymptomatic Carriers ◽  
Cardiac Symptoms ◽  
Female Carriers

X-linked Emery–Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern. The XCI pattern was determined on the lymphocytes of 30 symptomatic and asymptomatic EDMD1 female carriers—25 familial and 5 sporadic cases—seeking genetic advice using the androgen receptor (AR) methylation-based assay. Carriers were subdivided according to whether they were above or below 50 years of age. A variance analysis was performed to compare the XCI pattern between symptomatic and asymptomatic carriers. The results show that 20% of EDMD1 carriers had cardiac symptoms, and that 50% of these were ≥50 years of age. The XCI pattern was similar in both symptomatic and asymptomatic carriers. Conclusions: Arrhythmias in EDMD1 carriers poorly correlate on lymphocytes to a skewed XCI, probably due to (a) the different embryological origin of cardiac conduction tissue compared to lymphocytes or (b) the preferential loss of atrial cells replaced by fibrous tissue.

scholarly journals Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

Cell Reports ◽  
2019 ◽  
Vol 27 (2) ◽  
pp. 442-454.e5 ◽  
Author(s):  
Alex R.D. Delbridge ◽  
Andrew J. Kueh ◽  
Francine Ke ◽  
Natasha M. Zamudio ◽  
Farrah El-Saafin ◽  
...  
Keyword(s):  
X Chromosome ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Female Specific

Spread of X‐chromosome inactivation into autosomal regions in patients with unbalanced X‐autosome translocations and its phenotypic effects

2021 ◽  
Author(s):  
Bianca Pereira Favilla ◽  
Vera Ayres Meloni ◽  
Ana Beatriz Perez ◽  
Danilo Moretti‐Ferreira ◽  
Deise Helena Souza ◽  
...  
Keyword(s):  
X Chromosome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation
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