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Novel Compound Heterozygous Variants in the Gene in a Russian Patient with Meier-Gorlin Syndrome.
Appl Clin Genet
January 2022
Molecular Genetics Laboratory № 3 The Shared Resource Centre "Genome", Federal State Budgetary Scientific Institution Research Centre for Medical Genetics named after Academician N.P. Bochkov, Moscow, Russian Federation.
Background: Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patella, and an intrauterine growth retardation as well as a number of other characteristic features. The cause of the disease is mutations in genes encoding proteins involved in the regulation of the cell cycle (, and ).
View Article and Find Full Text PDFCharacterization of the bi-directional transcriptional control region between the human UFD1L and CDC45L genes.
Biochem Biophys Res Commun
May 2001
Division of Molecular Genetics, National Institute of Infectious Diseases, 1-23-1, Toyama, Shinjuku-ku, Tokyo, 162-8640, Japan
The human UFD1L and CDC45L genes, adjacently located in the head-to-head direction on chromosome 22q11, are separated by a 884 base-pair (bp) segment constituting the putative transcriptional control region. In this region we mapped one transcription start site at 69 bp upstream of UFD1L gene, and one major and one minor start sites at 76 bp and 503 bp upstream of CDC45L gene, which are to center in the putative core promoters designated as P(UFD1L), P(CDC45L/major), and P(CDC45L/minor), respectively. The three core promoters lacked a TATA-motif and had a high GC-content.
View Article and Find Full Text PDFCharacterization of CDC45L: a gene in the 22q11.2 deletion region expressed during murine and human development.
Mamm Genome
March 1999
Division of Human Genetics and Molecular Biology, The Children's Hospital of Philadelphia, 1002 Abramson Research Center, 34th Street and Civic Center Blvd., Philadelphia, Pennsylvania 19104, USA.
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