The DDK syndrome is defined as the embryonic lethality of F1 mouse embryos from crosses between DDK females and males from other strains (named hereafter as non-DDK strains). Genetically controlled by the Ovum mutant (Om) locus, it is due to a deleterious interaction between a maternal factor present in DDK oocytes and the non-DDK paternal pronucleus. Therefore, the DDK syndrome constitutes a unique genetic tool to study the crucial interactions that take place between the parental genomes and the egg cytoplasm during mammalian development. In this paper, we present an extensive analysis performed by exon trapping on the Om region. Twenty-seven trapped sequences were from genes in the databases: beta-adaptin, CCT zeta2, DNA LigaseIII, Notchless, Rad51l3 and Scya1. Twenty-eight other sequences presented similarities with expressed sequence tags and genomic sequences whereas 57 did not. The pattern of expression of 37 of these markers was established. Importantly, five of them are expressed in DDK oocytes and are candidate genes for the maternal factor, and 20 are candidate genes for the paternal factor since they are expressed in testis. This data is an important step towards identifying the genes responsible for the DDK syndrome.
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http://dx.doi.org/10.1016/s0378-1119(02)00832-6 | DOI Listing |
J Psychiatr Res
February 2024
Department of Anesthesiology, Pharmacology & Therapeutics, 2176 Health Sciences Mall, University of British Columbia, Vancouver, BC, V6T 1Z3, Canada; British Columbia Mental Health and Substance Use Services Research Institute, Vancouver, BC, Canada. Electronic address:
Nucleic Acids Res
October 2023
Institute of Cancer and Genomic Sciences, Birmingham Centre for Genome Biology, University of Birmingham, UK.
Faithful cell division is the basis for the propagation of life and DNA replication must be precisely regulated. DNA replication stress is a prominent endogenous source of genome instability that not only leads to ageing, but also neuropathology and cancer development in humans. Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human disease Meier-Gorlin syndrome.
View Article and Find Full Text PDFNat Med
May 2023
British Heart Foundation/University Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK.
J Allergy Clin Immunol
July 2023
Department of Microbiology, Immunology, and Transplantation, Laboratory of Adaptive Immunity, KU Leuven, Leuven, Belgium; VIB-KU Leuven Center for Brain and Disease Research, Leuven, Belgium; Immunology Programme, The Babraham Institute, Babraham Research Campus, Cambridge, United Kingdom. Electronic address:
Background: Severe congenital neutropenia presents with recurrent infections early in life as a result of arrested granulopoiesis. Multiple genetic defects are known to block granulocyte differentiation; however, a genetic cause remains unknown in approximately 40% of cases.
Objective: We aimed to characterize a patient with severe congenital neutropenia and syndromic features without a genetic diagnosis.
Nat Commun
July 2022
Enable Biosciences Inc, South San Francisco, CA, USA.
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