We have constructed a comparative map in mouse of the critical region of human 22q11 deleted in DiGeorge (DGS) and Velocardiofacial (VCFS) syndromes. The map includes 11 genes potentially haploinsufficient in these deletion syndromes. We have localized all the conserved genes to mouse Chromosome (Chr) 16, bands B1-B3. The determination of gene order shows the presence of two regions (distal and proximal), containing two groups of conserved genes. The gene order in the two regions is not completely conserved; only in the proximal group is the gene order identical to human. In the distal group the gene order is inverted. These two regions are separated by a DNA segment containing at least one gene which, in the human DGS region, is the most proximal of the known deleted genes. In addition, the gene order within the distal group of genes is inverted relative to the human gene order. Furthermore, a clathrin heavy chain-like gene was not found in the mouse genome by DNA hybridization, indicating that there is an inconsistent level of gene conservation in the region. These and other independent data obtained in our laboratory clearly show a complex evolutionary history of the DGS-VCFS region. Our data provide a framework for the development of a mouse model for the 22q11 deletion with chromosome engineering technologies.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s003359900606 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Chromosome-scale telomere to telomere genome assembly of common crystalwort (Riccia sorocarpa Bisch.).
Sci Data
January 2025
Department of Botany and Evolutionary Ecology, University of Warmia and Mazury in Olsztyn, Plac Łódzki 1, Olsztyn, 10-719, Poland.
Riccia sorocarpa Bisch., commonly known as common crystalwort, is a plant belonging to the Marchantiales order with a cosmopolitan distribution among a wide range of habitats: fields, gardens, waste ground, on paths, cliff tops, and thin soil over rocks or by water bodies. However, research into the genetic aspects of this species is limited.
View Article and Find Full Text PDFHerpesviruses mimic zygotic genome activation to promote viral replication.
Nat Commun
January 2025
Institute of Virology, University Medical Center, and Faculty of Medicine, Albert-Ludwig-University Freiburg, Freiburg, Germany.
Zygotic genome activation (ZGA) is crucial for maternal to zygotic transition at the 2-8-cell stage in order to overcome silencing of genes and enable transcription from the zygotic genome. In humans, ZGA is induced by DUX4, a pioneer factor that drives expression of downstream germline-specific genes and retroelements. Here we show that herpesviruses from all subfamilies, papillomaviruses and Merkel cell polyomavirus actively induce DUX4 expression to promote viral transcription and replication.
View Article and Find Full Text PDFDetermination of bacteriocin genes and antimicrobial activity of lactiplantibacillus plantarum isolated from Feta cheese samples.
FEMS Microbiol Lett
January 2025
Department of Molecular Biology and Genetics, Science Faculty, Ataturk University, Erzurum, Turkey.
In this study designed to isolate lactic acid bacteria (LAB) with bacteriocin production potential, white cheese samples were collected from different provinces of Turkey and isolation was carried out. A series of experiments were carried out for the main purpose and the actual bacteriocin producers were identified by detecting the genes encoding this bacteriocin. The experiments carried out in this direction were initially carried out with 20 isolates and as a result of various experiments, the number of isolates was reduced to 8 and the study was continued with 8 isolates.
View Article and Find Full Text PDFMulti-source biological knowledge-guided hypergraph spatiotemporal subnetwork embedding for protein complex identification.
Brief Bioinform
November 2024
Information Science and Technology College, Dalian Maritime University, No.1 Linghai Road, 116026, Dalian, Liaoning, China.
Identifying biologically significant protein complexes from protein-protein interaction (PPI) networks and understanding their roles are essential for elucidating protein functions, life processes, and disease mechanisms. Current methods typically rely on static PPI networks and model PPI data as pairwise relationships, which presents several limitations. Firstly, static PPI networks do not adequately represent the scopes and temporal dynamics of protein interactions.
View Article and Find Full Text PDFHeterogeneous entity representation for medicinal synergy prediction.
Bioinformatics
January 2025
School of Data Science and Society, University of North Carolina at Chapel Hill, NC 27599, United States.
Motivation: Forecasting the synergistic effects of drug combinations facilitates drug discovery and development, especially regarding cancer therapeutics. While numerous computational methods have emerged, most of them fall short in fully modeling the relationships among clinical entities including drugs, cell lines, and diseases, which hampers their ability to generalize to drug combinations involving unseen drugs. These relationships are complex and multidimensional, requiring sophisticated modeling to capture nuanced interplay that can significantly influence therapeutic efficacy.
View Article and Find Full Text PDFWant 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!