scholarly journals X-Chromosome inactivation in healthy females: incidence of excessive lyonization with age and comparison of assays involving DNA methylation and transcript polymorphisms

1998 ◽  
Vol 44 (1) ◽  
pp. 61-67 ◽  
Author(s):  
Nahed El Kassar ◽  
Gilles Hetet ◽  
Jean Brière ◽  
Bernard Grandchamp
Keyword(s):  
Dna Methylation ◽  
X Chromosome ◽  
Receptor Gene ◽  
Age Groups ◽  
Androgen Receptor Gene ◽  
X Chromosomes ◽  
Dna And Rna ◽  
Major Disadvantage ◽  
The Difference ◽  
Healthy Females

Abstract Skewed lyonization in healthy females represents the major disadvantage of X-chromosome-based clonality assays. Because most techniques are based on the difference in DNA methylation between active and inactive X-chromosomes, incomplete DNA digestion may occur, giving an unreliable clonality result. Here, we compare two different techniques carried out in healthy females belonging to three age groups and in a group of patients with essential thrombocythemia. The first technique involved the human androgen receptor gene, the second the transcript analysis of the iduronate-2-sulfatase, P55, and glucose-6-phospate dehydrogenase genes. Results between both techniques were concordant in most cases except in neonates, and the same pattern was observed in all fractions in healthy females. We conclude that: (a) clonality assays involving DNA and RNA polymorphisms are usually concordant except in neonates; (b) appropriate control tissue embryologically related to the sample must be chosen to eliminate excessive lyonization; (c) acquired skewing increases with age, whereas nonrandom lyonization is a rare phenomenon.

scholarly journals Sex and death: from cell fate specification to dynamic control of X-chromosome structure and gene expression

2018 ◽  
Vol 29 (22) ◽  
pp. 2616-2621 ◽  
Author(s):  
Barbara J. Meyer
Keyword(s):  
Gene Expression ◽  
Cell Fate ◽  
X Chromosome ◽  
Chromosome Structure ◽  
Dynamic Control ◽  
Three Dimensional ◽  
X Chromosomes ◽  
Meiotic Chromosomes ◽  
The Difference ◽  
Developmental Decision

Determining sex is a binary developmental decision that most metazoans must make. Like many organisms, Caenorhabditis elegans specifies sex (XO male or XX hermaphrodite) by tallying X-chromosome number. We dissected this precise counting mechanism to determine how tiny differences in concentrations of signals are translated into dramatically different developmental fates. Determining sex by counting chromosomes solved one problem but created another—an imbalance in X gene products. We found that nematodes compensate for the difference in X-chromosome dose between sexes by reducing transcription from both hermaphrodite X chromosomes. In a surprising feat of evolution, X-chromosome regulation is functionally related to a structural problem of all mitotic and meiotic chromosomes: achieving ordered compaction of chromosomes before segregation. We showed the dosage compensation complex is a condensin complex that imposes a specific three-­dimensional architecture onto hermaphrodite X chromosomes. It also triggers enrichment of histone modification H4K20me1. We discovered the machinery and mechanism underlying H4K20me1 enrichment and demonstrated its pivotal role in regulating higher-order X-chromosome structure and gene expression.

Unbalanced X-chromosome inactivation with a novel FVIII gene mutation resulting in severe hemophilia A in a female

Blood ◽  
2000 ◽  
Vol 96 (13) ◽  
pp. 4373-4375 ◽  
Author(s):  
Rémi Favier ◽  
Jean-Maurice Lavergne ◽  
Jean-Marc Costa ◽  
Claudine Caron ◽  
Claudine Mazurier ◽  
...  
Keyword(s):  
X Chromosome ◽  
Hemophilia A ◽  
De Novo ◽  
Direct Sequencing ◽  
Receptor Gene ◽  
Androgen Receptor Gene ◽  
Von Willebrand Disease ◽  
Polymorphism Analysis ◽  
Severe Hemophilia ◽  
Stop Mutation

Abstract This report is of a 14-month-old girl affected with severe hemophilia A. Both her parents had normal values for factor VIII activity, and von Willebrand disease type 2N was excluded. Karyotype analysis demonstrated no obvious alteration, and BclI Southern blot did not reveal F8 gene inversions. Direct sequencing of F8 gene exons revealed a frameshift-stop mutation (Q565delC/ter566) in the heterozygous state in the proposita only. F8 gene polymorphism analysis indicated that the mutation must have occurred de novo in the paternal germline. Furthermore, analysis of the pattern of X chromosome methylation at the human androgen receptor gene locus demonstrated a skewed inactivation of the derived maternal X chromosome from the lymphocytes of the proband's DNA. Thus, the severe hemophilia A in the proposita results from a de novo F8 gene frameshift-stop mutation on the paternally derived X chromosome, associated with a nonrandom pattern of inactivation of the maternally derived X chromosome.

DNA methylation in the androgen receptor gene promoter region in rat prostate cancers

The Prostate ◽  
2002 ◽  
Vol 52 (1) ◽  
pp. 82-88 ◽  
Author(s):  
Satoru Takahashi ◽  
Shingo Inaguma ◽  
Michihisa Sakakibara ◽  
Young-Man Cho ◽  
Shugo Suzuki ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Androgen Receptor ◽  
Promoter Region ◽  
Receptor Gene ◽  
Gene Promoter ◽  
Androgen Receptor Gene ◽  
Rat Prostate ◽  
Prostate Cancers ◽  
Gene Promoter Region

scholarly journals Polymorphisms of the androgen receptor gene associate with fatness, uterus and ovary measurements in the pig

2005 ◽  
Vol 48 (4) ◽  
pp. 372-382
Author(s):  
K. Wimmers ◽  
N. Trakooljul ◽  
K. Schellander ◽  
S. Ponsuksili
Keyword(s):  
Androgen Receptor ◽  
X Chromosome ◽  
Receptor Gene ◽  
Population Based ◽  
Androgen Receptor Gene ◽  
Deletion Polymorphism ◽  
Functional Candidate Gene ◽  
Exon 1 ◽  
Fat Thickness ◽  
Almost All

Abstract. Quantitative trait loci, QTL, for fatness and carcass traits in pigs have been recently mapped to the X chromosome approximately at the position where the androgen receptor gene (AR) is localized. The AR acts as a nuclear transcription factor regulating expression of a number of androgenic response genes during various stages of sexual development. The present study aimed to analyze association of the AR genotype on traits related to fatness and phenotype of primary female sexual organs, ovary and uterus. Animals of a F2 resource population based on Duroc and Berlin Miniature pig were genotyped at a multi-allelic microsatellite marker (CCTTT)n situated in the 5' untranslated region and a bi-allelic CAG-insertion/deletion polymorphism (CAG-INDEL) within exon 1 of the AR. Association analysis showed that the AR genotype both at the CAG-INDEL and microsatellite affect almost all fatness traits measured. The D allele inherited from Duroc was associated with the decrease of fat thickness. The AR genotypes also affect uterus and ovary measurements. The pigs homozygous for D allele were likely to have a lighter uterus, shorter uterus horns, oviducts and smaller ovaries than pigs homozygous for the M allele. Our results confirm the previously reported QTL for fatness traits and provide evidence for a QTL affecting dimensions of uterus and ovary on the X chromosome. The AR is a positional functional candidate gene for both trait complexes.

The Relationship between Libido and Testosterone Levels in Aging Men

2006 ◽  
Vol 91 (7) ◽  
pp. 2509-2513 ◽  
Author(s):  
Thomas G. Travison ◽  
John E. Morley ◽  
Andre B. Araujo ◽  
Amy B. O’Donnell ◽  
John B. McKinlay
Keyword(s):  
Receptor Gene ◽  
Population Level ◽  
Serum Testosterone ◽  
Androgen Receptor Gene ◽  
Community Dwelling ◽  
Patient Reports ◽  
Aging Men ◽  
Unit Increase ◽  
The Difference

Abstract Context: Although it is known that serum testosterone (T) concentrations are related to libido, the strength of that relationship in community-dwelling men has not yet been determined. Objective: Our objective was to assess the strength and significance of the association between aging men’s self-reports of libido and serum T concentrations. Design: Our study was a community-based evaluation of men’s health and aging, including three data collection waves: baseline (T1, 1987–1989) and follow-ups (T2, 1995–1997; T3, 2002–2004). Libido was measured on a 14-point scale assessing self-reported frequency of desire and thoughts/fantasies; low libido was defined as a score of less than 7 of 14. Setting: We conducted an epidemiological study in greater Boston, Massachusetts. Participants: There were 1632 men aged 40–70 yr at baseline, with follow-up on 922 (56%) at 9 yr (T2) and 623 (38%) at 15 yr (T3). Main Outcome Measures: We assessed total and calculated bioavailable T . Results: Three hundred eighteen (19%) subjects reported low libido at baseline. Libido and T displayed a significant association. However, the difference in mean T levels between those subjects with low libido and those without was small; analyses indicated a 3.4 ng/dl (0.12 nmol/liter) increase in total T per unit increase in libido. Subjects reporting low libido exhibited an increased but modest probability of exhibiting low T. Dividing T concentrations by the number of androgen receptor gene cytosine, adenine, guanine repeats did not enhance associations. Conclusions: Libido and T concentrations are strongly related at the population level. However, the value of individual patient reports of reduced libido as indicators of low T levels is open to question.

scholarly journals Gender Difference Analysis of Xp11.2 Translocation Renal Cell Carcinomas’s Attack Rate

2020 ◽  
Author(s):  
Wenyuan Zhuang ◽  
Ning Liu ◽  
Hongqian Guo ◽  
Weidong Gan ◽  
Chunni Zhang
Keyword(s):  
Gender Difference ◽  
Incidence Rate ◽  
X Chromosome ◽  
Renal Cell ◽  
Attack Rate ◽  
Meta Analysis ◽  
X Chromosomes ◽  
Gene Translocation ◽  
The Difference ◽  
Xp11.2 Translocation

Abstract Background Xp11.2 translocation renal cell carcinoma (tRCC) is recently recognized. As Xp11.2 tRCC involved gene translocation and fusion in X chromosome and the number of X chromosomes in female is twice of male, we wondered whether the gender difference of attack rate is consistent with the proportion of the X chromosome. Methods In the present paper, meta-analysis was performed to find out the difference of morbidity between male and female. Results 9 studies with 209 cases calculated. Odds ratios (ORs) and ORs with 95% confidence intervals (CIs) were calculated for attack rate of Xp11.2 RCC with different gender. The result showed that the attack rate of female was higher than that of male with pooled OR of 2.84 (95% CI = 1.48–5.45), while the rate rises even further in adult (OR = 3.37, 95% CI = 2.19–5.18). In other types of common kidney cancer, the OR value is less than 1, which means that the incidence of female is lower than that of male. Conclusions The result showed that the incidence rate of female patients is much higher than that of male patients with Xp11.2 tRCC, it was reasonable to indicate that this particular incidence rate is related to the X chromosome.

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