Articles

Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

X-linked ocular albinism type 1 (OA1) is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic chang...

Authors: Valérie Faugère, Sylvie Tuffery-Giraud, Christian Hamel and Mireille Claustres

Inferring relationships between pairs of individuals from locus heterozygosities

The traditional exact method for inferring relationships between individuals from genetic data is not easily applicable in all situations that may be encountered in several fields of applied genetics. This stu...

Authors: Silvano Presciuttini, Chiara Toni, Elena Tempestini, Simonetta Verdiani, Lucia Casarino, Isabella Spinetti, Francesco De Stefano, Ranieri Domenici and Joan E Bailey-Wilson

Chromosomal aberrations in patients with head and neck squamous cell carcinoma do not vary based on severity of tobacco/alcohol exposure

Head and neck squamous cell carcinomas (HNSCC) have been causally associated with tobacco and alcohol exposure. However, 10–15% of HNSCC develop in absence of significant carcinogen exposure. Several lines of ...

Authors: Bhuvanesh Singh, Volkert B Wreesmann, David Pfister, Ashok Poluri, Ashok R Shaha, Dennis Kraus, Jatin P Shah and Pulivarthi H Rao

Haplotype analysis of the PPARγ Pro12Ala and C1431T variants reveals opposing associations with body weight

Variation at the PPARG locus may influence susceptibility to type 2 diabetes and related traits. The Pro12Ala polymorphism may modulate receptor activity and is associated with protection from type 2 diabetes. Ho...

Authors: Alex Doney, Bettina Fischer, David Frew, Alastair Cumming, David M Flavell, Michael World, Hugh E Montgomery, Douglas Boyle, Andrew Morris and Colin NA Palmer

The human homologue of unc-93 maps to chromosome 6q27 – characterisation and analysis in sporadic epithelial ovarian cancer

In sporadic ovarian cancer, we have previously reported allele loss at D6S193 (62%) on chromosome 6q27, which suggested the presence of a putative tumour suppressor gene. Based on our data and that from another g...

Authors: Ying Liu, Phillippa Dodds, Gracy Emilion, Andrew J Mungall, Ian Dunham, Stephan Beck, Spencer R Wells, L F Mark Charnock and Trivadi S Ganesan

SNP frequency, haplotype structure and linkage disequilibrium in elite maize inbred lines

Recent studies of ancestral maize populations indicate that linkage disequilibrium tends to dissipate rapidly, sometimes within 100 bp. We set out to examine the linkage disequilibrium and diversity in maize e...

Authors: Ada Ching, Katherine S Caldwell, Mark Jung, Maurine Dolan, Oscar S (Howie) Smith, Scott Tingey, Michele Morgante and Antoni J Rafalski

The human L-threonine 3-dehydrogenase gene is an expressed pseudogene

L-threonine is an indispensable amino acid. One of the major L-threonine degradation pathways is the conversion of L-threonine via 2-amino-3-ketobutyrate to glycine. L-threonine dehydrogenase (EC 1.1.1.103) is...

Authors: Alasdair J Edgar

Isolation and characterization of new Saccharomyces cerevisiae mutants perturbed in nuclear pore complex assembly

Nuclear pore complexes (NPCs) are essential for facilitated, directional nuclear transport; however, the mechanism by which ~30 different nucleoporins (nups) are assembled into NPCs is unknown. We combined a g...

Authors: Kathryn J Ryan and Susan R Wente

Telomere formation on macronuclear chromosomes of Oxytricha trifallax and O. fallax : alternatively processed regions have multiple telomere addition sites

Ciliates employ massive chromatid breakage and de novo telomere formation during generation of the somatic macronucleus. Positions flanking the 81-MAC locus are reproducibly cut. But those flanking the Common Reg...

Authors: Kevin R Williams, Thomas G Doak and Glenn Herrick

Conservation of the COP9/signalosome in budding yeast

The COP9/signalosome (CSN), a multiprotein complex consisting of eight subunits, is implicated in a wide variety of regulatory processes including cell cycle control, signal transduction, transcriptional activ...

Authors: Susan Wee, Bettina Hetfeld, Wolfgang Dubiel and Dieter A Wolf

Comparative transcription map of the wobbler critical region on mouse chromosome 11 and the homologous region on human chromosome 2p13-14

To support the positional cloning of the mouse mutation wobbler (wr ) the corresponding regions on human Chr2p13-14 and mouse Chr11 were analyzed in detail and compared with respect to gene content, order, and or...

Authors: Sonja Fuchs, Karin Resch, Cora Thiel, Michael Ulbrich, Matthias Platzer, Harald Jockusch and Thomas Schmitt-John

Setting of graded levels of a protein in yeast by a t-degron technique as applied to phosphoglycerate mutase

Setting of graded levels of a protein for in vivo studies by controlled gene expression has inconveniences, and we here explore the use of the t-degron technique instead.

Authors: Katja Heidrich and Dan G Fraenkel

Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophy

Intronic DNA sequences of the canine arrestin (SAG ) gene was screened to identify potential disease causing mutations in dogs with generalized progressive retinal atrophy (gPRA). The intronic sequences flanking ...

Authors: Gabriele Dekomien and Jörg Thomas Epplen

The Tnfrh1 (Tnfrsf23) gene is weakly imprinted in several organs and expressed at the trophoblast-decidua interface

The Tnfrh1 gene (gene symbol Tnfrsf23) is located near one end of a megabase-scale imprinted region on mouse distal chromosome 7, about 350 kb distant from the nearest known imprinting control element. Within 20 ...

Authors: Lorraine Clark, Michelle Wei, Giorgio Cattoretti, Cathy Mendelsohn and Benjamin Tycko

A hierarchical statistical model for estimating population properties of quantitative genes

Earlier methods for detecting major genes responsible for a quantitative trait rely critically upon a well-structured pedigree in which the segregation pattern of genes exactly follow Mendelian inheritance law...

Authors: Samuel S Wu, Chang-Xing Ma, Rongling Wu and George Casella

Apolipoprotein C3 SstI polymorphism and triglyceride levels in Asian Indians

A close association between Sst I polymorphism in the 3' untranslated region of the apolipoproteinC3 (APOC3 ) gene and levels of plasma triglycerides (TG) had been reported by different investigators. Hypertrigly...

Authors: S Chhabra, R Narang, LR Krishnan, S Vasisht, DP Agarwal, LM Srivastava, SC Manchanda and N Das

The minisequencing method: a simple strategy for genetic screening of MEN 2 families

Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B by medullary thyroid carcinoma, p...

Authors: MariaJoão Bugalho, Rita Domingues and Luís Sobrinho

Statistics on continuous IBD data: Exact distribution evaluation for a pair of full(half)-sibs and a pair of a (great-) grandchild with a (great-) grandparent

Pairs of related individuals are widely used in linkage analysis. Most of the tests for linkage analysis are based on statistics associated with identity by descent (IBD) data. The current biotechnology provid...

Authors: Valeri T Stefanov

Occurrence of leu⁺ revertants under starvation cultures in Escherichia coli is growth-dependent

Many investigations have reported that advantageous mutations occurred more frequently under selective conditions than those under non-selective conditions. This phenomenon is referred to as adaptive mutation....

Authors: Jianling Jin, Peiji Gao and Yumin Mao

Human CCS gene: genomic organization and exclusion as a candidate for amyotrophic lateral sclerosis (ALS)

Amyotrophic lateral sclerosis (ALS) is a progressive lethal disorder of large motor neurons of the spinal cord and brain. In approximately 20% of the familial and 2% of sporadic cases the disease is due to a d...

Authors: Asli N Silahtaroglu, Karen Brondum-Nielsen, Ole Gredal, Lene Werdelin, Marios Panas, Michael B Petersen, Niels Tommerup and Zeynep Tümer

Multiple telophase arrest bypassed (tab) mutants alleviate the essential requirement for Cdc15 in exit from mitosis in S. cerevisiae

The Mitotic Exit Network (MEN) proteins – including the protein kinase Cdc15 and the protein phosphatase Cdc14 – are essential for exit from mitosis in Saccharomyces cerevisiae. To identify downstream targets of ...

Authors: Wenying Shou and Raymond J Deshaies

CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX

To learn about the molecular etiology of strabismus, we are studying the genetic basis of 'congenital fibrosis of the extraocular muscles' (CFEOM). These syndromes are characterized by congenital restrictive o...

Authors: Elizabeth C Engle, Nathalie McIntosh, Koki Yamada, Bjorn A Lee, Roger Johnson, Michael O'Keefe, Robert Letson, Arnold London, Evan Ballard, Mark Ruttum, Naomichi Matsumoto, Nakamichi Saito, Mary Louise Z Collins, Lisa Morris, Del Monte Monte, Adriano Magli…

Identification and preliminary characterization of mouse Adam33

The metalloprotease-disintegrin family, or ADAM, proteins, are implicated in cell-cell interactions, cell fusion, and cell signaling, and are widely distributed among metazoan phyla. Orthologous relationships ...

Authors: Teresa M Gunn, Arezou Azarani, Philip H Kim, Richard W Hyman, Ronald W Davis and Gregory S Barsh

Analysis of genetic heterogeneity in the HCAR adenovirus-binding Ig1 domain in a Caucasian Flemish population

Polymorphisms in the gene that encodes the human cellular receptor for group B coxsackieviruses and adenoviruses (HCAR) could be responsible for differences in susceptibility to infections with these pathogens...

Authors: Inge Thoelen, Griet Duson, Elke Wollants and Marc Van Ranst

A necdin/MAGE-like gene in the chromosome 15 autism susceptibility region: expression, imprinting, and mapping of the human and mouse orthologues

Proximal chromosome 15q is implicated in neurodevelopmental disorders including Prader-Willi and Angelman syndromes, autistic disorder and developmental abnormalities resulting from chromosomal deletions or du...

Authors: Thea K Chibuk, Jocelyn M Bischof and Rachel Wevrick

A sensitive and rapid assay for homologous recombination in mosquito cells: impact of vector topology and implications for gene targeting

Recent progress in insect transgenesis has been dramatic but existing transposon-based approaches are constrained by position effects and potential instability. Gene targeting would bring a number of benefits,...

Authors: Paul Eggleston and Yuguang Zhao

Fusion of the NUP98 gene with the LEDGF/p52 gene defines a recurrent acute myeloid leukemia translocation

The NUP98 gene is involved in multiple rearrangements in haematological malignancy. The leukemic cells in an acute myeloid leukemia (AML) patient with a t(9;11)(p22;p15) were recently shown to have a fusion betwe...

Authors: Damian J Hussey, Sarah Moore, Mario Nicola and Alexander Dobrovic

Discrimination of three mutational events that result in a disruption of the R122 primary autolysis site of the human cationic trypsinogen (PRSS1) by denaturing high performance liquid chromatography

R122, the primary autolysis site of the human cationic trypsinogen (PRSS1), constitutes an important "self-destruct" or "fail-safe" defensive mechanism against premature trypsin activation within the pancreas....

Authors: Cedric Le Maréchal, Jian-Min Chen, Isabelle Quéré, Odile Raguénès, Claude Férec and Jean Auroux

Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure

Glaucoma is a blinding disease usually associated with high intraocular pressure (IOP). In some families, abnormal anterior segment development contributes to glaucoma. The genes causing anterior segment dysge...

Authors: Bo Chang, Richard S Smith, Maureen Peters, Olga V Savinova, Norman L Hawes, Adriana Zabaleta, Steven Nusinowitz, Janice E Martin, Muriel L Davisson, Constance L Cepko, Brigid LM Hogan and Simon WM John

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