Syndrome de Klinefelter, rôle du chromosome Y dans l’espérance de vie humaine ?

2020 ◽  
Vol 81 (4) ◽  
pp. 194
Author(s):  
J. Teoli ◽  
C. Bardel ◽  
M. Fablet ◽  
G. Marais ◽  
F. Gueyffier ◽  
...  
Keyword(s):  
Chromosome Y ◽  
Syndrome De Klinefelter

scholarly journals Leukocytes with chromosome Y loss have reduced abundance of the cell surface immunoprotein CD99

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Jonas Mattisson ◽  
Marcus Danielsson ◽  
Maria Hammond ◽  
Hanna Davies ◽  
Caroline J. Gallant ◽  
...  
Keyword(s):  
Cell Surface ◽  
Single Cells ◽  
Surface Protein ◽  
Protein Abundance ◽  
Blood Leukocytes ◽  
Chromosome Y ◽  
Increased Risk ◽  
A Cell ◽  
Pseudoautosomal Regions ◽  
Male Specific

AbstractMosaic loss of chromosome Y (LOY) in immune cells is a male-specific mutation associated with increased risk for morbidity and mortality. The CD99 gene, positioned in the pseudoautosomal regions of chromosomes X and Y, encodes a cell surface protein essential for several key properties of leukocytes and immune system functions. Here we used CITE-seq for simultaneous quantification of CD99 derived mRNA and cell surface CD99 protein abundance in relation to LOY in single cells. The abundance of CD99 molecules was lower on the surfaces of LOY cells compared with cells without this aneuploidy in all six types of leukocytes studied, while the abundance of CD proteins encoded by genes located on autosomal chromosomes were independent from LOY. These results connect LOY in single cells with immune related cellular properties at the protein level, providing mechanistic insight regarding disease vulnerability in men affected with mosaic chromosome Y loss in blood leukocytes.

scholarly journals Evaluation of the usefulness of saliva for mosaic loss of chromosome Y analysis

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Tsuyoshi Hachiya ◽  
Takuro Kobayashi ◽  
Wataru Tsutae ◽  
Pamela Hui Peng Gan ◽  
Iri Sato Baran ◽  
...  
Keyword(s):  
Physical Activity ◽  
Chromosome Y ◽  
Data Support ◽  
Biomarker Of Aging

AbstractMosaic loss of chromosome Y (mLOY) in leukocytes has attracted much attention as an emerging biomarker of aging and aging-related diseases. We evaluated the usefulness of saliva for mLOY analysis and showed that saliva-derived mLOY is significantly associated with aging and increased physical activity, but not with smoking. While these data support the robust association between saliva-derived mLOY and aging, caution is required when comparing data from saliva-derived and blood-derived mLOY.

scholarly journals Chromosome Y pericentric heterochromatin is a primary target of HSF1 in male cells

Chromosoma ◽  
2021 ◽  
Vol 130 (1) ◽  
pp. 53-60
Author(s):  
Jessica Penin ◽  
Solenne Dufour ◽  
Virginie Faure ◽  
Sabrina Fritah ◽  
Daphné Seigneurin-Berny ◽  
...  
Keyword(s):  
Heat Shock ◽  
Transcriptional Activation ◽  
Human Fibroblasts ◽  
Pericentric Heterochromatin ◽  
Chromosome 9 ◽  
Nuclear Accumulation ◽  
Critical Element ◽  
Heat Shock Factor 1 ◽  
Primary Target ◽  
Chromosome Y

AbstractThe heat shock factor 1 (HSF1)-dependent transcriptional activation of human pericentric heterochromatin in heat-shocked cells is the most striking example of transcriptional activation of heterochromatin. Until now, pericentric heterochromatin of chromosome 9 has been identified as the primary target of HSF1, in both normal and tumor heat-shocked cells. Transcriptional awakening of this large genomic region results in the nuclear accumulation of satellite III (SATIII) noncoding RNAs (ncRNAs) and the formation in cis of specific structures known as nuclear stress bodies (nSBs). Here, we show that, in four different male cell lines, including primary human fibroblasts and amniocytes, pericentric heterochromatin of chromosome Y can also serve as a unique primary site of HSF1-dependent heterochromatin transcriptional activation, production of SATIII ncRNA, and nucleation of nuclear stress bodies (nSBs) upon heat shock. Our observation suggests that the chromosomal origin of SATIII transcripts in cells submitted to heat shock is not a determinant factor as such, but that transcription of SATIII repetitive units or the SATIII ncRNA molecules is the critical element of HSF1-dependent transcription activation of constitutive heterochromatin.

scholarly journals Le syndrome de Klinefelter à 20 ans: A propos de 426 observations

Andrologie ◽  
1994 ◽  
Vol 4 (3) ◽  
pp. 288-295
Author(s):  
B. Bauduceau ◽  
H. Mayaudon ◽  
PH. Crozes ◽  
J. C. Charrut ◽  
J. R. Riveline ◽  
...  
Keyword(s):  
Syndrome De Klinefelter

Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias

2018 ◽  
Vol 154 (3) ◽  
pp. 122-125 ◽  
Author(s):  
Mami Miyado ◽  
Koji Muroya ◽  
Momori Katsumi ◽  
Kazuki Saito ◽  
Masafumi Kon ◽  
...  
Keyword(s):  
Y Chromosome ◽  
Cytogenetic Analysis ◽  
Chromosomal Rearrangements ◽  
Related Phenomenon ◽  
Limited Evidence ◽  
Elderly Men ◽  
Chromosome Y ◽  
Chromosomal Genes

Isodicentric Y chromosome [idic(Y)] represents a relatively common subtype of Y chromosomal rearrangements in the germline; however, limited evidence supports the postzygotic occurrence of idic(Y). Here, we report a boy with hypospadias and somatically acquired idic(Y). The 3.5-year-old boy has been identified in our previous study for patients with hypospadias. In the present study, cytogenetic analysis including FISH revealed a 45,X[5]/46,X,idic(Y)[7]/46,XY[8] karyotype. MLPA showed a mosaic deletion involving PPP1R12BP1 and RBMY2DP. The idic(Y) was likely to have been formed through aberrant recombination between P1 palindromes and subsequently underwent mosaic loss. The patient's phenotype was attributable to deletion of some Y chromosomal genes and/or mosaic loss of chromosome Y (mLOY). The results suggest that idic(Y) can originate in postzygotic cells via palindrome-mediated crossovers. Moreover, our data indicate that somatically acquired idic(Y) can trigger mLOY, which usually appears as an aging-related phenomenon in elderly men.

Rétro-transposition de la séquence humaine homologue á la p49f sur le chromosome y au cours de l'evolution des singes anthropoïdes

1990 ◽  
Vol 18 (2-3) ◽  
pp. 199-204 ◽  
Author(s):  
G. Lucotte ◽  
V. Barriel ◽  
P. Guerin ◽  
N. Abbas ◽  
J. Ruffie
Keyword(s):  
Chromosome Y

scholarly journals Immune defects and cardiovascular risk in X chromosome monosomy mosaicism mediated by loss of chromosome Y. A risk factor for SARS-CoV-2 vulnerability in elderly men?

2020 ◽  
Author(s):  
Luis A. Pérez-Jurado ◽  
Alejandro Cáceres ◽  
Tonu Esko ◽  
Juan R. González
Keyword(s):  
Cardiovascular Risk ◽  
X Chromosome ◽  
Large Scale ◽  
Case Fatality ◽  
Peripheral Blood Cell ◽  
Coagulation Activity ◽  
Chromosome Y ◽  
Immune System Dysfunction ◽  
Cell Counts ◽  
Multiple Biomarkers

AbstractThe ongoing pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2, COVID-19) has an estimated overall case fatality ratio of 1.38% in China, being 53% higher in males and increasing exponentially with age. Mosaicism for X chromosome monosomy (XCM) shows a similar increase in aging population mostly driven by loss of chromosome Y in males (LOY), and is associated with a raise in all-cause mortality. Using comparative transcriptomic data, we have defined that XCM/LOY is associated with abnormal peripheral blood cell counts with decreased progenitor cells and multiple biomarkers of immune system dysfunction, pro-coagulation activity and increased cardiovascular risk. Several differentially down-regulated genes in XCM/LOY individuals are involved in the initial immune response to SARS-CoV-2 (OR of enrichment=7.23, p=1.5×10−7), mainly interferon-induced genes that code for inhibitors of viral processes. Thus, our data suggest that XCM mosaicism underlies at least part of the sex-biased severity and mortality of COVID-19 in aging patients. Given its potential relevance for modulating prognosis and therapeutic response, we propose that evaluation of LOY and XCM by currently established methods should be implemented as biomarkers in infected patients, including currently ongoing clinical trials with different medications and vaccines for COVID-19. Testing for LOY/XCM at large scale among elderly people may also be helpful to identify still unexposed people who may be especially vulnerable to severe Covid-19 disease.

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