alpha-Tectorin is one of the major noncollagenous components of the mammalian tectorial membrane in the inner ear. We have mapped the gene encoding alpha-tectorin to mouse chromosome 9 and human chromosome 11 in a known region of conserved synteny. Human YAC clones containing alpha-tectorin have been identified, demonstrating physical linkage to the anonymous marker D11S925. This places alpha-tectorin within the genetic interval that contains both the human nonsyndromic autosomal dominant deafness DFNA12 and the proximal limit of a subset of deletions within Jacobsen syndrome. Thus both DFNA12 and the hearing loss in some cases of Jacobsen syndrome may be due to haploinsufficiency for TECTA.
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http://dx.doi.org/10.1006/geno.1997.5159 | DOI Listing |
PLoS One
January 2025
Mandel Center for Heart and Vascular Research, The Duke Cardiovascular Research Center, Duke University Medical Center, Durham, NC, United States of America.
Early events in the reprogramming of fibroblasts to cardiac muscle cells are unclear. While various histone undergo modification and re-positioning, and these correlate with the activity of certain genes, it is unknown if these events are causal or happen in response to reprogramming. Histone modification and re-positioning would be expected to open up chromatin on lineage-specific genes and this can be ascertained by studying nucleosome architecture.
View Article and Find Full Text PDFActa Neurobiol Exp (Wars)
January 2025
Laboratory of Animal Models, Nencki Institute of Experimental Biology, Polish Academy of Sciences, Warsaw, Poland.
The phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene is a critical tumor suppressor that plays an essential role in the development and functionality of the central nervous system. Located on chromosome 10 in humans and chromosome 19 in mice, PTEN encodes a protein that regulates cellular processes such as division, proliferation, growth, and survival by antagonizing the PI3K‑Akt‑mTOR signaling pathway. In neurons, PTEN dephosphorylates phosphatidylinositol‑3,4,5‑trisphosphate (PIP3) to PIP2, thereby modulating key signaling cascades involved in neurogenesis, neuronal migration, and synaptic plasticity.
View Article and Find Full Text PDFmBio
January 2025
Department of Microbiology, Harvard Medical School, Boston, Massachusetts, USA.
Bacterial infections can induce exuberant immune responses that can damage host tissues. Previously, we demonstrated that systemic infection in mice causes tissue damage in the liver. This liver necrosis is associated with the expression of endogenous retroviruses, chromosomally integrated retroviruses that encode a reverse transcriptase.
View Article and Find Full Text PDFSci Rep
January 2025
Department of Chromosome Biomedical Engineering, School of Life Science, Faculty of Medicine, Tottori University, 86 Nishi-cho, Yonago, Tottori, 683‑8503, Japan.
Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations of the dystrophin gene, which spans 2.4 Mb on the X chromosome. Creatine kinase (CK) activity in blood and titin fragment levels in urine have been identified as biomarkers in DMD to monitor disease progression and evaluate therapeutic intervention.
View Article and Find Full Text PDFGene
January 2025
Área Microbiología e Inmunología, Facultad de Química, BioquímicaArgentina y Farmacia, Universidad Nacional de San Luis, Ejercito de los Andes 950, P. O. 5700 San Luis, Argentina. Electronic address:
Yersinia enterocolitica, a bacterial enteropathogen that produces a variety of clinical manifestations in humans, includes six biotypes (B), called 1A, 1B, 2, 3, 4 and 5 and about 70 serotypes. The biotypes exhibit diverse pathogenic potential; while 1B and 2-5 may show ability to produce clinical symptoms due to the presence of chromosomal and plasmid (pYV) virulence genes, B1A is supposed a non-pathogenic biotype since it lacks pYV plasmid. Therefore, although B1A strains cause diarrhea in humans, their pathogenic potential has not yet been extensively studied.
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