Articles

Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing

Currently molecular diagnostic laboratories focus only on the identification of large deletion and duplication mutations (spanning one exon or more) for Duchenne Muscular Dystrophy (DMD) yielding 65% of causat...

Authors: Richard R Bennett, Johan den Dunnen, Kristine F O'Brien, Basil T Darras and Louis M Kunkel

Erratum to: Intraocular pressure in genetically distinct mice: an update and strain survey: Correction

Authors: Olga V Savinova, Fumihiro Sugiyama, Janice E Martin, Stanislav I Tomarev, Beverly J Paigen, Richard S Smith and Simon WM John

Isozyme and allozyme markers distinguishing two morphologically similar, medically important Mastomys species (Rodentia: Muridae)

Two common southern African mice species, Mastomys coucha and M. natalensis, are widely distributed throughout the subregion and overlap in many areas. They also share a high degree of morphological similarity, m...

Authors: Andre A Smit and Herman FH Van der Bank

Somatic frameshift mutations in the Bloom syndrome BLM gene are frequent in sporadic gastric carcinomas with microsatellite mutator phenotype

Genomic instability has been reported at microsatellite tracts in few coding sequences. We have shown that the Bloom syndrome BLM gene may be a target of microsatelliteinstability (MSI) in a short poly-adenine re...

Authors: George Calin, Guglielmina N Ranzani, Dino Amadori, Vlad Herlea, Irina Matei, Giuseppe Barbanti-Brodano and Massimo Negrini

Major genomic mitochondrial lineages delineate early human expansions

The phylogeographic distribution of human mitochondrial DNA variations allows a genetic approach to the study of modern Homo sapiens dispersals throughout the world from a female perspective. As a new contributio...

Authors: Nicole Maca-Meyer, Ana M González, José M Larruga, Carlos Flores and Vicente M Cabrera

Intraocular pressure in genetically distinct mice: an update and strain survey

Little is known about genetic factors affecting intraocular pressure (IOP) in mice and other mammals. The purpose of this study was to determine the IOPs of genetically distinct mouse strains, assess the effec...

Authors: Olga V Savinova, Fumihiro Sugiyama, Janice E Martin, Stanislav I Tomarev, Beverly J Paigen, Richard S Smith and Simon WM John

Gene targeting in mosquito cells: a demonstration of 'knockout' technology in extrachromosomal gene arrays

Gene targeting would offer a number of advantages over current transposon-based strategies for insect transformation. These include freedom from both position effects associated with quasi-random integration a...

Authors: Paul Eggleston and Yuguang Zhao

RHD positive haplotypes in D negative Europeans

Blood group genotyping is increasingly utilized for prenatal diagnosis and after recent transfusions, but still lacks the specificity of serology. In whites, the presence of antigen D is predicted, if two or m...

Authors: Franz F Wagner, Alexander Frohmajer and Willy A Flegel

A missense mutation (Q279R) in the Fumarylacetoacetate Hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation

Tyrosinemia type I, the most severe disease of the tyrosine catabolic pathway is caused by a deficiency in fumarylacetoacetate hydrolase (FAH). A patient showing few of the symptoms associated with the disease...

Authors: Natacha Dreumont, Jacques A Poudrier, Anne Bergeron, Harvey L Levy, Faouzi Baklouti and Robert M Tanguay

Genomic organization and single-nucleotide polymorphism map of desmuslin, a novel intermediate filament protein on chromosome 15q26.3

Desmuslin is an α-dystrobrevin-interacting protein expressed primarily in heart and skeletal muscle. The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated ...

Authors: Yuji Mizuno, Annibale A Puca, Kristine F O'Brien, Alan H Beggs and Louis M Kunkel

The A54T polymorphism at the intestinal fatty acid binding protein 2 is associated with insulin resistance in glucose tolerant Caucasians

An A54T polymorphism at the fatty acid binding protein 2 (FABP2) locus was found to be associated with insulin resistance in non-diabetic Pima Indians. To see whether this association is present in other popul...

Authors: Ken C Chiu, Lee-Ming Chuang and Carol Yoon

CTLA4 gene polymorphisms are associated with, and linked to, insulin-dependent diabetes mellitus in a Russian population

The association between the human cytotoxic T lymphocyte-associated antigen-4 (CTLA4) gene and insulin-dependent diabetes mellitus (IDDM) is unclear in populations. We therefore investigated whether the gene c...

Authors: Dimitry A Chistiakov, Kirill V Savost'anov and Valery V Nosikov

NRG1 is required for glucose repression of the SUC2 and GAL genes of Saccharomyces cerevisiae

Glucose repression of transcription in the yeast, Saccharomyces cerevisiae, has been shown to be controlled by several factors, including two repressors called Mig1 and Mig2. Past results suggest that other repre...

Authors: Heng Zhou and Fred Winston

MICE, a program to track and monitor animals in animal facilities

A growing number of laboratories are using the mouse as a model system in developmental biology as well as in molecular biology. Surprisingly, most of these laboratories do not have reliable computerized syste...

Authors: Kim E Boulukos and Philippe Pognonec

Analysis of human sarcospan as a candidate gene for CFEOM1

Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is an autosomal dominant eye movement disorder linked to the pericentromere of chromosome 12 (12p11.2 - q12). Sarcospan is a member of the dystrop...

Authors: Kristine F O'Brien, Elizabeth C Engle and Louis M Kunkel

Chromosomal mapping, gene structure and characterization of the human and murine RAB27B gene

Rab GTPases are regulators of intracellular membrane traffic. The Rab27 subfamily consists of Rab27a and Rab27b. Rab27a has been recently implicated in Griscelli Disease, a disease combining partial albinism w...

Authors: José S Ramalho, Tanya Tolmachova, Alistair N Hume, Amanda McGuigan, Cheryl Y Gregory-Evans, Clare Huxley and Miguel C Seabra

Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice

Glaucoma is a common disease but its molecular etiology is poorly understood. It involves retinal ganglion cell death and optic nerve damage that is often associated with elevated intraocular pressure. Identif...

Authors: Michael G Anderson, Richard S Smith, Olga V Savinova, Norman L Hawes, Bo Chang, Adriana Zabaleta, Robert Wilpan, John R Heckenlively, Muriel Davisson and Simon WM John

Muscle Specific Fragile X Related Protein 1 Isoforms are Sequestered in the Nucleus of Undifferentiated Myoblast

The family of Fragile X Mental Retardation Proteins is composed of three members: Fragile Mental Retardation 1, Fragile X Related 1 and X Related 2 proteins. These proteins are associated with mRNPs within tra...

Authors: Marthe Dubé, Marc-Etienne Huot and Edouard W Khandjian

In vivo labelling of functional ribosomes reveals spatial regulation during starvation in Podospora anserina

To date, in eukaryotes, ribosomal protein expression is known to be regulated at the transcriptional and/or translational levels. But other forms of regulation may be possible.

Authors: Hervé Lalucque and Philippe Silar

Hepatic glucokinase promoter polymorphism is associated with hepatic insulin resistance in Asian Indians.

The role of glucokinase (GCK) in the pathogenesis of maturity-onset diabetes of the young is well established. However, its role in the common form of type 2 diabetes is far from convincing. We investigated th...

Authors: Ken C Chiu, Lee-Ming Chuang, Carol Yoon and Mohammad F Saad

Human cytomegalovirus IE1 promoter/enhancer drives variable gene expression in all fiber types in transgenic mouse skeletal muscle

Versatile transgenic manipulation of skeletal muscle requires knowledge of the expression profiles of diverse promoter/enhancer elements in the transcriptionally specialized fiber types of which muscle is comp...

Authors: Patricia L. Hallauer and Kenneth E.M. Hastings