scholarly journals Detectable chromosome X mosaicism in males is rarely tolerated in peripheral leukocytes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Weiyin Zhou ◽  
Shu-Hong Lin ◽  
Sairah M. Khan ◽  
Meredith Yeager ◽  
Stephen J. Chanock ◽  
...  
Keyword(s):  
X Chromosome ◽  
Gene Dosage ◽  
Large Population ◽  
Population Based ◽  
Chromosome X ◽  
Genotyping Array ◽  
Chromosome Mosaicism ◽  
Age Related ◽  
Leukocyte Function ◽  
Peripheral Leukocytes

AbstractAge-related male Y and female X chromosome mosaicism is commonly observed in large population-based studies. To investigate the frequency of male X chromosome mosaicism, we scanned for deviations in chromosome X genotyping array intensity data in a population-based survey of 196,219 UK Biobank men. We detected 12 (0.006%) men with mosaic chromosome X gains ≥ 2 Mb and found no evidence for mosaic chromosome X loss, a level of detection substantially lower than for autosomes or other sex chromosomes. The rarity of chromosome X mosaicism in males relative to females reflects the importance of chromosome X gene dosage for leukocyte function.

Marsupial Cytogenetics

1989 ◽  
Vol 37 (3) ◽  
pp. 331 ◽  
Author(s):  
DL Hayman
Keyword(s):  
X Chromosome ◽  
Dna Sequences ◽  
Chromosome Numbers ◽  
Chromosome Evolution ◽  
Sex Chromosome ◽  
Repeated Dna ◽  
Chromosome X ◽  
X Chromosomes ◽  
Repeated Dna Sequences ◽  
Chromosome Mosaicism

This review includes a list of the chromosome numbers of marsupials and a summary of the main features of chromosome evolution in this group of mammals. Special topics discussed include sex chromosome mosaicism, the size of the marsupial X chromosome, X chromosomes and nucleolar organisers, complex sex chromosome systems, repeated DNA sequences and aspects of meiosis.

scholarly journals Probing brain developmental patterns of myelination and associations with psychopathology in youth using gray/white matter contrast

2018 ◽  
Author(s):  
Linn B. Norbom ◽  
Nhat Trung Doan ◽  
Dag Alnæs ◽  
Tobias Kaufmann ◽  
Torgeir Moberget ◽  
...  
Keyword(s):  
Individual Differences ◽  
White Matter ◽  
Cognitive Ability ◽  
Large Population ◽  
Population Based ◽  
Magnetic Resonance Images ◽  
Childhood And Adolescence ◽  
Cognitive Components ◽  
Age Related ◽  
Regional Associations

AbstractBackgroundCerebral myeloarchitecture shows substantial development across childhood and adolescence, and aberrations in these trajectories are relevant for a range of mental disorders. Differential myelination between intracortical and subjacent white matter can be approximated using signal intensities in T1-weighted magnetic resonance images (MRI).MethodsTo test the sensitivity of gray/white matter contrast (GWC) to age and individual differences in psychopathology and general cognitive ability in youth (8-23 years), we formed data-driven psychopathology and cognitive components using a large population-based sample, the Philadelphia Neurodevelopmental Cohort (PNC) (n=6487, 52% females). We then tested for associations with regional GWC defined by an independent component analysis (ICA) in a subsample with available MRI data (n=1467, 53% females).ResultsThe analyses revealed a global GWC component, which showed an age-related decrease from late childhood and across adolescence. In addition, we found regional anatomically meaningful components with differential age associations explaining variance beyond the global component. When accounting for age and sex, both higher symptom levels of anxiety or prodromal psychosis and lower cognitive ability were associated with higher GWC in insula and cingulate cortices and with lower GWC in pre- and postcentral cortices. We also found several additional regional associations with anxiety, prodromal psychosis and cognitive ability.ConclusionIndependent modes of GWC variation are sensitive to global and regional brain developmental processes, possibly related to differences between intracortical and subjacent white matter myelination, and individual differences in regional GWC are associated with both mental health and general cognitive functioning.

Parental origin of the X chromosome, X chromosome mosaicism and screening for “hidden” Y chromosome in 45,X Turner syndrome ascertained cytogenetically

2008 ◽  
Vol 48 (1) ◽  
pp. 6-11 ◽  
Author(s):  
Torben Larsen ◽  
Claus Højbjerg Gravholt ◽  
Annette Tillebeck ◽  
Hanne Larsen ◽  
Marianne Bryder Jensen ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
X Chromosome ◽  
Parental Origin ◽  
Chromosome X ◽  
Chromosome Mosaicism

scholarly journals Weather Woes? Exploring Potential Links between Precipitation and Age-Related Cognitive Decline

2020 ◽  
Vol 17 (23) ◽  
pp. 9011
Author(s):  
Jessica Finlay ◽  
Anam Khan ◽  
Carina Gronlund ◽  
Ketlyne Sol ◽  
Joy Jang ◽  
...  
Keyword(s):  
Older Adults ◽  
Cognitive Function ◽  
Cognitive Decline ◽  
Racial Differences ◽  
Large Population ◽  
Population Based ◽  
Older Americans ◽  
The Past ◽  
Age Related ◽  
Stroke Study

Rain, snow, or ice may discourage older adults from leaving their homes with potential consequences for social isolation, decreased physical activity, and cognitive decline. This study is the first to examine potential links between annual precipitation exposure and cognitive function in a large population-based cohort of older Americans. We examined the association between precipitation (percent of days with snow or rain in the past year) and cognitive function in 25,320 individuals aged 45+ from the Reasons for Geographic and Racial Differences in Stroke Study. Linear mixed models assessed the relationship between precipitation and cognitive function, as well as rates of change in cognitive function with age. We found a non-linear relationship between precipitation and cognitive function. Compared to those exposed to infrequent precipitation (less than 20% of days with rain/snow in the past year), cognitive function was higher among older adults experiencing moderately frequent precipitation (20–40% of annual days with precipitation). However, beyond more than about 45% of days with precipitation in the past year, there was a negative association between precipitation and cognitive function, with faster rates of cognitive decline with age. These exploratory findings motivate further research to better understand the complex role of precipitation for late-life cognitive function.

P3341Micro and macrovascular damage across the glycemic spectrum among women and men from general population

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M Roos ◽  
E Aribas ◽  
L Chaker ◽  
C Klaver ◽  
F Ahmadizar ◽  
...  
Keyword(s):  
General Population ◽  
Large Population ◽  
Ankle Brachial Index ◽  
Intima Media Thickness ◽  
Carotid Intima Media Thickness ◽  
Organ Damage ◽  
Population Based ◽  
Microvascular Damage ◽  
Cross Sectional ◽  
Age Related

Abstract Background Type 2 diabetes mellitus (T2DM) is a global epidemic that is strongly associated with micro- and macrovascular complications. Head to head comparisons of micro- and macrovascular dysfunction across the glycaemic spectrum among women and men from large population-based cohorts are sparse. Purpose To investigate associations of impaired serum fasting glucose (IFG) and T2DM with markers of micro- and macrovascular damage among women and men from general population. Methods We included 10,920 women and men (>45 years) from a large prospective population-based study. We applied linear and logistic regression analyses to examine the cross-sectional associations between IFG and T2DM with markers of micro- and macrovascular damage including estimated glomerular filtration rate (eGFR), retinopathy, carotid intima-media thickness (cIMT), carotid plaque (CP), carotid-femoral pulse-wave velocity (PWV), and ankle-brachial index (ABI), adjusted for cardiovascular risk factors. Results Mean age was 65.09±10.0 years, 11.8% had IFG and 12.2% were T2DM patients. The majority of population were women (57.2%). In the fully adjusted models, compared to individuals with normal glucose levels (<6.1 mmol/l), IFG was independently associated with PWV (β; 95% CI: 0.011; 0.002–0.021) among men. T2DM was independently associated with larger burden of CP (Odds ratio (OR); 95% CI: 1.57; 1.13–2.17), and higher eGFR (β; 95% CI: 2.17; 0.62–3.72) among women and with larger burden of retinopathy (OR; 95% CI: 1.92; 1.30–2.85), higher cIMT (β; 95% CI: 0.010; 0.01–0.02), and PWV (β; 95% CI: 0.03; 0.01–0.04) among men. Conclusions IFG and T2DM were associated with micro- and macrovascular damage. Compared to non-diabetics, diabetic men had larger burden for markers of microvascular damage including retinopathy while diabetic women had larger burden of macrovascular damage including CP. Both IGF and T2DM were also associated with age-related macrovascular markers such as cIMT and PWV. Proper screening of macrovascular changes at earlier stages of dysglycemia and before the overt T2DM is crucial for prevention and early treatment of end-organ damage

scholarly journals X chromosome gene dosage as a determinant of congenital malformations and of age-related comorbidity risk in patients with Turner syndrome, from childhood to early adulthood

2019 ◽  
Vol 180 (6) ◽  
pp. 397-406 ◽  
Author(s):  
Elodie Fiot ◽  
Delphine Zénaty ◽  
Priscilla Boizeau ◽  
Jérémie Haignere ◽  
Sophie Dos Santos ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Cumulative Incidence ◽  
Congenital Malformations ◽  
Gene Dosage ◽  
Early Adulthood ◽  
Ring Chromosome ◽  
Chromosome Gene ◽  
Age Related ◽  
Design And Methods

ObjectiveTurner Syndrome is associated with several phenotypic conditions associated with a higher risk of subsequent comorbidity. We aimed to evaluate the prevalence of congenital malformations and the occurrence of age-related comorbid conditions and to determine whether the frequencies of congenital and acquired conditions depend on X chromosome gene dosage, as a function of karyotype subgroup.Design and methodsThis national retrospective observational cohort study includes 1501 patients. We evaluated the prevalence of congenital malformations and the cumulative incidence of subsequent specific comorbidities at five-year intervals, from the ages of 10 to 30 years, with stratification by karyotype subgroup: 45,X (n = 549), 45,X/46,isoXq (n = 280), 46,X,r(X)/46,XX (n = 106), 45,X/46,XX (n = 221), presence of Y (n = 87).ResultsMedian age was 9.4 (3.7–13.7) years at first evaluation and 16.8 (11.2–21.4) years at last evaluation. Congenital heart (18.9%) malformations were more frequent in 45,X patients, and congenital renal (17.2%) malformations were more frequent in 45,X, 45,X/46,isoXq and 46,X,r(X)/46,XX patients than in those with 45,X/46,XX mosaicism or a Y chromosome (P < 0.0001). The cumulative incidence of subsequent acquired conditions, such as thyroid disease, hearing loss, overweight/obesity, dyslipidemia and, to a lesser extent, celiac disease, glucose intolerance/type 2 diabetes, hypertension and liver dysfunction increased with age, but less markedly for patients with mosaicism than for those with other karyotypes. Patients with a ring chromosome were more prone to metabolic disorders.ConclusionThese data suggest that X gene chromosome dosage, particularly for Xp genes, contributes to the risk of developing comorbidities.

scholarly journals Female chromosome X mosaicism is age-related and preferentially affects the inactivated X chromosome

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Mitchell J. Machiela ◽  
Weiyin Zhou ◽  
Eric Karlins ◽  
Joshua N. Sampson ◽  
Neal D. Freedman ◽  
...  
Keyword(s):  
X Chromosome ◽  
Chromosome X ◽  
Age Related

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%).

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