Background: Y-autosome (Y/A) translocations have been reported in association with male infertility. Different hypotheses have been made as to correlations between Y/A translocations and spermatogenetic disturbances. We describe an azoospermic patient with a de-novo Y;14 translocation: 45,X,dic(Y;14)(q12;p11).
Methods And Results: Cytogenetic, fluorescent in-situ hybridization (FISH) and molecular studies have been performed. A 14/22 (D14Z1/D22Z1) centromere and a Y centromere (DYZ1) probe both showed a signal on the translocation chromosome, confirming its dicentricity. Each copy of the translocation chromosome had only one primary constriction, with inactivation of the Y centromere in most (90%) of the cells. The 14 centromere was inactive in the remaining cells (10%). FISH and molecular deletion mapping analysis allowed acute assignment of the Yq breakpoint to the junction of euchromatin and heterochromatin (Yq12), distal to the AZF gene location (Yq11).
Conclusions: This study supports the hypothesis that in Y/A translocations infertility might be related to meiotic disturbances with spermatogenetic arrest. In addition, sex chromosome molecular investigations, performed on single spermatids, suggest a highly increased risk of producing chromosomally abnormal embryos.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1093/humrep/17.3.564 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Treating late-onset Tay Sachs disease: Brain delivery with a dual trojan horse protein.
Mol Ther Methods Clin Dev
September 2024
The Sagol Center for Epigenetics and Institute of Endocrinology, Metabolism and Hypertension, Tel Aviv-Sourasky Medical Center, Tel Aviv, Israel.
Tay-Sachs (TS) disease is a neurodegenerative disease resulting from mutations in the gene encoding the α-subunit (HEXA) of lysosomal β-hexosaminidase A (HexA). We report that (1) recombinant HEXA alone increased HexA activity and decreased GM2 content in human TS glial cells and peripheral mononuclear blood cells; 2) a recombinant chimeric protein composed of HEXA linked to two blood-brain barrier (BBB) entry elements, a transferrin receptor binding sequence and granulocyte-colony stimulating factor, associates with HEXB ; reaches human cultured TS cells lysosomes and mouse brain cells, especially neurons, ; lowers GM2 in cultured human TS cells; lowers whole brain GM2 concentration by approximately 40% within 6 weeks, when injected intravenously (IV) to adult TS-mutant mice mimicking the slow course of late-onset TS; and increases forelimbs grip strength. Hence, a chimeric protein equipped with dual BBB entry elements can transport a large protein such as HEXA to the brain, decrease the accumulation of GM2, and improve muscle strength, thereby providing potential treatment for late-onset TS.
View Article and Find Full Text PDFSPTLC3 Is Essential for Complex I Activity and Contributes to Ischemic Cardiomyopathy.
Circulation
August 2024
Department of Biochemistry and Molecular Biology (Y.A.V., Y.Y., J.A., J.D., D.M., E.J.L., L.A.C.), Virginia Commonwealth University, Richmond.
Background: Dysregulated metabolism of bioactive sphingolipids, including ceramides and sphingosine-1-phosphate, has been implicated in cardiovascular disease, although the specific species, disease contexts, and cellular roles are not completely understood. Sphingolipids are produced by the serine palmitoyltransferase enzyme, canonically composed of 2 subunits, SPTLC1 (serine palmitoyltransferase long chain base subunit 1) and SPTLC2 (serine palmitoyltransferase long chain base subunit 2). Noncanonical sphingolipids are produced by a more recently described subunit, SPTLC3 (serine palmitoyltransferase long chain base subunit 3).
View Article and Find Full Text PDFPooled CRISPR screening of high-content cellular phenotypes using ghost cytometry.
Cell Rep Methods
March 2024
ThinkCyte Inc., Tokyo 113-8654, Japan; Research Center for Advanced Science and Technology, The University of Tokyo, Tokyo 153-8904, Japan. Electronic address:
Recent advancements in image-based pooled CRISPR screening have facilitated the mapping of diverse genotype-phenotype associations within mammalian cells. However, the rapid enrichment of cells based on morphological information continues to pose a challenge, constraining the capacity for large-scale gene perturbation screening across diverse high-content cellular phenotypes. In this study, we demonstrate the applicability of multimodal ghost cytometry-based cell sorting, including both fluorescent and label-free high-content phenotypes, for rapid pooled CRISPR screening within vast cell populations.
View Article and Find Full Text PDFDevelopment of a novel genetic sexing strain of Ceratitis capitata based on an X-autosome translocation.
Sci Rep
September 2023
Programa Operativo de Moscas, SADER-SENASICA/IICA, Camino a los Cacaotales S/N, CP 30860, Metapa de Domínguez, Chiapas, México.
Genetic sexing strains (GSS), such as the Ceratitis capitata (medfly) VIENNA 8 strain, facilitate male-only releases and improve the efficiency and cost-effectiveness of sterile insect technique (SIT) applications. Laboratory domestication may reduce their genetic diversity and mating behaviour and hence, refreshment with wild genetic material is frequently needed. As wild males do not carry the T(Y;A) translocation, and wild females do not easily conform to artificial oviposition, the genetic refreshment of this GSS is a challenging and time-consuming process.
View Article and Find Full Text PDFBacteriophage therapy against pathological Klebsiella pneumoniae ameliorates the course of primary sclerosing cholangitis.
Nat Commun
June 2023
Division of Gastroenterology and Hepatology, Department of Internal Medicine, Keio University, Tokyo, Japan.
Article Synopsis
- Primary sclerosing cholangitis (PSC) involves harmful inflammation and scarring of bile ducts and has been linked to certain gut bacteria, particularly Klebsiella pneumoniae and Enterococcus gallinarum, found abundantly in PSC patients' fecal samples.* -
- Research shows that carriers of these bacteria experience more severe disease and inflammation, validated through experiments in mice where PSC-related Kp worsens liver injury.* -
- A developed lytic phage cocktail effectively targets and reduces Kp levels, improving liver health in affected mice, suggesting this treatment could be a promising strategy for managing PSC.*
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!