Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

2017 ◽  
Vol 173 (5) ◽  
pp. 1334-1341 ◽  
Author(s):  
Anna Podolska ◽  
Albrecht Kobelt ◽  
Sigrid Fuchs ◽  
Karl Hackmann ◽  
Andreas Rump ◽  
...  
Keyword(s):  
X Inactivation ◽  
Inactivation Pattern

X-inactivation pattern in the liver of a manifesting female with ornithine transcarbamylase (OTC) deficiency

1998 ◽  
Vol 54 (4) ◽  
pp. 349-353 ◽  
Author(s):  
Tohru Yorifuji ◽  
Junko Muroi ◽  
Ayumi Uematsu ◽  
Koichi Tanaka ◽  
Koji Kiwaki ◽  
...  
Keyword(s):  
Ornithine Transcarbamylase ◽  
X Inactivation ◽  
Inactivation Pattern ◽  
Otc Deficiency

X-inactivation pattern in carriers of X-linked retinitis pigmentosa: A valuable means of prognostic evaluation?

1993 ◽  
Vol 92 (4) ◽  
pp. 359-363 ◽  
Author(s):  
Ursula Friedrich ◽  
Mette Warburg ◽  
Arne Lund J�rgensen
Keyword(s):  
Retinitis Pigmentosa ◽  
X Inactivation ◽  
Prognostic Evaluation ◽  
Inactivation Pattern

scholarly journals Incorporation of 5-ethynyl-2′-deoxyuridine (EdU) as a novel strategy for identification of the skewed X inactivation pattern in balanced and unbalanced X-rearrangements

2015 ◽  
Vol 135 (2) ◽  
pp. 185-192 ◽  
Author(s):  
Luiza Sisdelli ◽  
Angela Cristina Vidi ◽  
Mariana Moysés-Oliveira ◽  
Adriana Di Battista ◽  
Adriana Bortolai ◽  
...  
Keyword(s):  
X Inactivation ◽  
Inactivation Pattern ◽  
Novel Strategy ◽  
Skewed X Inactivation

scholarly journals Intelligence Quotient Variability in Klinefelter Syndrome Is Associated With GTPBP6 Expression Under Regulation of X-Chromosome Inactivation Pattern

2021 ◽  
Vol 12 ◽  
Author(s):  
Luciane Simonetti ◽  
Lucas G. A. Ferreira ◽  
Angela Cristina Vidi ◽  
Janaina Sena de Souza ◽  
Ilda S. Kunii ◽  
...  
Keyword(s):  
Gene Expression ◽  
X Chromosome ◽  
Intelligence Quotient ◽  
Klinefelter Syndrome ◽  
X Chromosome Inactivation ◽  
X Inactivation ◽  
Chromosome Inactivation ◽  
Neurocognitive Dysfunction ◽  
Inactivation Pattern ◽  
Iq Scores

Klinefelter syndrome (KS) displays a broad dysmorphological, endocrinological, and neuropsychological clinical spectrum. We hypothesized that the neurocognitive dysfunction present in KS relies on an imbalance in X-chromosome gene expression. Thus, the X-chromosome inactivation (XCI) pattern and neurocognitive X-linked gene expression were tested and correlated with intelligence quotient (IQ) scores. We evaluated 11 KS patients by (a) IQ assessment, (b) analyzing the XCI patterns using both HUMARA and ZDHHC15 gene assays, and (c) blood RT-qPCR to investigate seven X-linked genes related to neurocognitive development (GTPBP6, EIF2S3, ITM2A, HUWE1, KDM5C, GDI1, and VAMP7) and XIST in comparison with 14 (male and female) controls. Considering IQ 80 as the standard minimum reference, we verified that the variability in IQ scores in KS patients seemed to be associated with the XCI pattern. Seven individuals in the KS group presented a random X-inactivation (RXI) and lower average IQ than the four individuals who presented a skewed X-inactivation (SXI) pattern. The evaluation of gene expression showed higher GTPBP6 expression in KS patients with RXI than in controls (p = 0.0059). Interestingly, the expression of GTPBP6 in KS patients with SXI did not differ from that observed in controls. Therefore, our data suggest for the first time that GTPBP6 expression is negatively associated with full-scale IQ under the regulation of the type of XCI pattern. The SXI pattern may regulate GTPBP6 expression, thereby dampening the impairment in cognitive performance and playing a role in intelligence variability in individuals with KS, which warrants further mechanistic investigations.

X-inactivation pattern in the epididymis of sex-reversed mice heterozygous for testicular feminization

Development ◽  
1974 ◽  
Vol 32 (1) ◽  
pp. 217-225
Author(s):  
Ulrich Drews ◽  
Valentin Alonso-Lozano
Keyword(s):  
X Chromosome ◽  
Sex Reversal ◽  
Cellular Level ◽  
X Inactivation ◽  
Testicular Feminization ◽  
Wild Type ◽  
Female Mice ◽  
Inactivation Pattern ◽  
Ultrastructural Appearance ◽  
Male Sex

Female mice heterozygous for testicular feminization were sex-reversed by means of the autosomal sex reversal mutation (Sxr). Due to X-inactivation, the blastemata for male sex organs in these animals are composed of a mixture of cells, carrying either the wildtype X chromosome or the X chromosome affected with Tfm in an active state. Thus, the two types of cells are sensitive to androgens or insensitive to androgens, respectively. This mosaic could be demonstrated in the epididymis on a cellular level. Segments of undifferentiated Tfm cells were found alternating with normally differentiated wild-type cells. The ultrastructural appearance of the mosaic is described.

X inactivation pattern in interstitial deletions of the fragile X region

1994 ◽  
Vol 51 (4) ◽  
pp. 451-451 ◽  
Author(s):  
Malgorzata Schmidt ◽  
Anne Robertson ◽  
Marjorie Crawford
Keyword(s):  
Fragile X ◽  
X Inactivation ◽  
Inactivation Pattern

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X-inactivation pattern

2004 ◽  
Vol 131A (3) ◽  
pp. 273-280 ◽  
Author(s):  
G. Tachdjian ◽  
A. Aboura ◽  
M. Benkhalifa ◽  
I. Creveaux ◽  
L. Foix-Hélias ◽  
...  
Keyword(s):  
De Novo ◽  
X Inactivation ◽  
Inactivation Pattern ◽  
Skewed X Inactivation

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

1997 ◽  
Vol 100 (2) ◽  
pp. 256-262 ◽  
Author(s):  
D. J. Wolff ◽  
Karen M. Gustashaw ◽  
Vickie Zurcher ◽  
Lara Ko ◽  
Wendy White ◽  
...  
Keyword(s):  
X Inactivation ◽  
Severe Phenotype ◽  
Inactivation Pattern

scholarly journals Clonal hematopoiesis as defined by polymorphic X-linked loci occurs infrequently in aplastic anemia

Blood ◽  
1995 ◽  
Vol 86 (8) ◽  
pp. 2938-2947 ◽  
Author(s):  
A Raghavachar ◽  
JW Janssen ◽  
H Schrezenmeier ◽  
B Wagner ◽  
CR Bartram ◽  
...  
Keyword(s):  
Aplastic Anemia ◽  
Mononuclear Cells ◽  
Methylation Status ◽  
Phosphoglycerate Kinase ◽  
Methylation Pattern ◽  
Clonal Analysis ◽  
X Inactivation ◽  
Polymorphonuclear Cells ◽  
Clonal Hematopoiesis ◽  
Inactivation Pattern

Abstract We evaluated the methylation status of the X-linked gene phosphoglycerate kinase (PGK1) and the DXS 255 locus detected by probe M27 beta to study clonality in acquired aplastic anemia (AA). A total of 30 females were suitable for clonal analysis of peripheral blood polymorphonuclear cells (PMN) and mononuclear cells using a polymerase chain reaction-based procedure in 24 patients and Southern blotting in 9. Overall, 10 of 30 patients exhibited an imbalanced X-inactivation pattern. However, in 4 patients, analysis of constitutional DNA suggested a skewed methylation pattern and 2 further cases had to be excluded because of the lack of an appropriate control. A truly clonal pattern was thus established in 4 of 30 (13%) patients. In 7 patients who later developed clonal disorders of hematopoiesis, X-inactivation analysis did not predict this event in any case. In patients with a paroxysmal nocturnal hemoglobinuria phenotype, there was no correlation between the proportion of phosphatidylinositol glycan anchored protein (PIG-AP)-deficient blood cells and the corresponding X-inactivation pattern. X-inactivation analysis detected clonal hematopoiesis in only 3 of 10 patients with a deficiency in PIG-AP in the cell population under study, but sorting of nucleated cells on the basis of PIG-AP expression showed the clonal nature of PIG-AP-deficient cells. We conclude that the majority of patients with AA show polyclonal hematopoiesis using X-linked clonal analysis, but that minor clonal populations, such as PIG-AP-deficient cells, may not be detected unless sorted cell populations are separately analyzed.

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