Abstract:
:The STM7 gene encodes a novel phosphatidylinositol-4-phosphate 5-kinase (PtdInsP 5-kinase) that is subject to alternative splicing and developmental control. We have recently presented data indicating that several splice variants of STM7 incorporate elements of the X25 sequence, previously implicated in the pathogenesis of Friedreich's ataxia by the detection of an intronic GAA repeat expansion as the predominant mutation in affected individuals. We now report the exon-intron structure of STM7.I and primer sequences designed to facilitate full characterization, including details relating to a novel exon (STM7; exon 17) derived from the 3'-UTR of the PRKACG gene. The detection of a mutation(s) within these exons would provide additional support for the hypothesis that a defect in phosphoinositide metabolism gives rise to the disease phenotype.
journal_name
Genomicsjournal_title
Genomicsauthors
Pook MA,Carvajal JJ,Doudney K,Hillermann R,Chamberlain Sdoi
10.1006/geno.1997.4726subject
Has Abstractpub_date
1997-05-15 00:00:00pages
170-2issue
1eissn
0888-7543issn
1089-8646pii
S0888-7543(97)94726-1journal_volume
42pub_type
杂志文章相关文献
GENOMICS文献大全abstract::We sequenced the mitogenomes of Astictopterus jama, Isoteinon lamprospilus and Notocrypta curvifascia to obtain further insight into the mitogenomic architecture evolution and performed phylogenetic reconstruction using 29 Hesperiidae mitogenome sequences. The complete mitogenome sequences of A. jama, I. lamprospilus ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.03.006
更新日期:2020-01-01 00:00:00
abstract::The Long-Evans Cinnamon (LEC) rat has a spontaneous mutation, T helper immunodeficiency (thid), which causes a markedly reduced CD4(+) thymocyte population. Here we positionally clone the locus and identify a deletion in the gene encoding a receptor-like protein tyrosine phosphatase kappa (Ptprk) that led to complete ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2007.03.001
更新日期:2007-06-01 00:00:00
abstract::The 19 chromosomal pairs of the swine karyotype are resolved into 18 peaks denoted A to Q and Y by dual-beam flow cytometry. The chromosomal content of six peaks has previously been determined by analyzing male/female differences, karyotypes of animals carrying translocations, and PCR studies of genes with known assig...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1146
更新日期:1993-04-01 00:00:00
abstract::Oncogenic hypophosphatemic osteomalacia (OHO) is characterized by a renal phosphate leak, hypophosphatemia, low-serum calcitriol (1,25-vitamin-D3), and abnormalities in skeletal mineralization. Resection of OHO tumors results in remission of the symptoms, and there is evidence that a circulating phosphaturic factor pl...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2000.6235
更新日期:2000-07-01 00:00:00
abstract::Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left ventricular RNA from Transverse Aortic Constriction mice at 48 h, 1 week, and 2, 3, and 8 weeks after surgery to microarrays containing a 15K fetal cDNA collect...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2006.04.012
更新日期:2006-10-01 00:00:00
abstract::We have analyzed tumor and lymphocyte DNA from six breast cancer patients by one- and two-dimensional DNA fingerprinting using micro- and minisatellite core probes to estimate the extent and nature of DNA alterations in tumors. Both approaches were compared regarding sensitivity in genome analysis. We find that the nu...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1284
更新日期:1993-07-01 00:00:00
abstract::Cataract Tohoku (Cat(Tohm)) is a dominant cataract mutation that leads to severe degeneration of lens fiber cells. Linkage analysis showed that the Cat(Tohm) mutation is located on mouse chromosome 10, close to the gene for aquaporin-0 (Aqp0), which encodes a membrane protein that is expressed specifically in lens fib...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(03)00029-6
更新日期:2003-04-01 00:00:00
abstract::A gene for autosomal recessive juvenile parkinsonism (ARJP; HGMW-approved symbol PARK2; MIM 600116) has recently been mapped to a 17-cM interval on chromosome 6q25.2-q27. We here report an inbred family with ARJP showing a perfect cosegregation with null allele for D6S305, which is a marker within the ARJP locus. We a...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.5196
更新日期:1998-04-01 00:00:00
abstract::Sp4H is a semi-dominant mutation that maps to mouse chromosome 1. Heterozygous mice exhibit white spotting of the belly, whereas the fate of the homozygous embryos is unknown. We have previously shown that the entire coding region of the Pax3 gene is deleted in the Sp4H mutant. In this study, we have analyzed the fate...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0267
更新日期:1996-06-01 00:00:00
abstract::The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed to provide a resource for long-range mapping of this region. A large fraction of the hybrids (approximately 90%) retained...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1993.1383
更新日期:1993-09-01 00:00:00
abstract::Genes homologous to those located on human chromosome 4 (HSA4) were mapped in the bovine to determine regions of syntenic conservation among humans, mice, and cattle. Previous studies have shown that two homologs of genes on HSA4, PGM2 and PEPS, are located in bovine syntenic group U15 (chromosome 6). The homologous m...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/s0888-7543(05)80295-2
更新日期:1992-09-01 00:00:00
abstract::We have integrated genetic and physical mapping data for chromosome 17 subdivided into 26 bins, by using a panel of chromosome 17 deletion somatic cell hybrids. One hundred four short tandem repeat and STS markers have been localized into these bins and have enabled the ordering of 288 ESTs and 26 genes, including 142...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.4906
更新日期:1997-10-01 00:00:00
abstract::The key regulatory elements for PKD2 transcription remain unclear. To identify these core elements, we characterized porcine PKD2 promoter with bioinformatics and molecular tools and found porcine PKD2 promoter bearing typical features of enriched CpG and less TATA. Further studies demonstrated that the core region wa...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2014.08.006
更新日期:2014-12-01 00:00:00
abstract::Gene targeting is widely used for the precise manipulation of genes. However, in the model organism Caenorhabditis elegans non-transposon mediated gene targeting remains laborious, and as a result has not been widely used. One obstacle to the wider use of this approach is the difficulty of identifying homologous recom...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2009.09.001
更新日期:2010-01-01 00:00:00
abstract::A novel human gene, SARM, encodes the orthologue of a Drosophila protein (CG7915) and contains a unique combination of the sterile alpha (SAM) and the HEAT/Armadillo motifs. The SARM gene was identified on chromosome 17q11, between markers D17S783 and D17S841 on BAC clone AC002094, which also included a HERV repeat an...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.2001.6548
更新日期:2001-06-01 00:00:00
abstract::We completed a systematic survey of the human genome, conducted at an average resolution of 10 cM, for the identification of simple sequence tandem repeat polymorphisms (SSTRPs) that target new risk genes for Alzheimer disease (AD) by virtue of linkage disequilibrium. The efficiency of our association study was enhanc...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1998.5306
更新日期:1998-06-01 00:00:00
abstract::The functionality of sense-antisense transcripts (SATs), although widespread throughout the mammalian genome, is largely unknown. Here, we analyzed the SATs expression and its associated promoter DNA methylation status by surveying 12 tissues of mice to gain insights into the relationship between expression and DNA me...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2010.08.007
更新日期:2010-12-01 00:00:00
abstract::We isolated the human homologue, SUPT5H, of the yeast transcription factor, SPT5. The human homologue is 1088 aa long compared to 1063 aa for the yeast gene. SUPT5H maps to 19q13, near the ryanodine receptor. Like its family member, SUPT6H, and like yeast SPT5, SUPT5H has a very acidic 5' domain. Like its family membe...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0646
更新日期:1996-12-15 00:00:00
abstract::Nitric oxide (NO) is an important molecular messenger regulating the functions of a wide variety of cells and tissues. NO is synthesized from L-arginine by a variety of isoforms of the enzyme nitric oxide synthase (NOS). We have used Southern blotting analysis on DNAs obtained from a panel of human-rodent hybrid cell ...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1994.1286
更新日期:1994-05-15 00:00:00
abstract::Brachyuran crabs comprise the most species-rich clade among the crustacean order Decapoda and are divided into several major superfamilies. However, the monophyly of the superfamilies Ocypodoidea and Grapsoidea in their current compositions within the Brachyura remains inconclusive. In this study, the complete mitocho...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2019.06.004
更新日期:2020-01-01 00:00:00
abstract::Sex determination in humans is mediated through the expression of a testis-determining gene on the Y chromosome. In humans, a candidate gene for the testis-determining factor (TDF) that encodes a protein with a putative DNA-binding motif and has been isolated is termed SRY. Here we describe an XY sex-reversed female w...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/0888-7543(92)90164-n
更新日期:1992-07-01 00:00:00
abstract::In humans, uridine 5'-diphosphate glucuronosyltransferase (UGT) operates in opposition to glucuronidase (GUS) to control activity of diverse metabolites such as hormones by reversible conjugation with glucuronic acid. Previous data revealed that, as in mammals, these enzymes are required for plant life in that a UGT f...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2007.03.014
更新日期:2007-07-01 00:00:00
abstract::We describe the isolation and characterization of a human gene (CLCN3) and its murine homologue (Clcn3) sharing significant sequence and structural similarities with all previously identified members of the voltage-gated chloride channel (ClC) family. This gene is expressed primarily in tissues derived from neuroectod...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1995.1015
更新日期:1995-05-01 00:00:00
abstract::Most diseases are complex in that they are caused by the joint action of multiple factors, both genetic and environmental. Over the past few decades, the mathematical convenience of logistic regression has served to enshrine the multiplicative model, to the point where many epidemiologists believe that departure from ...
journal_title:Genomics
pub_type: 杂志文章,评审
doi:10.1016/j.ygeno.2008.06.002
更新日期:2009-01-01 00:00:00
abstract::Nematodes are responsible for causing severe diseases in plants, humans and other animals. Infection is associated with the release of Excretory/Secretory (ES) proteins into host cytoplasm and interference with the host immune system which make them attractive targets for therapeutic use. The identification of ES prot...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2018.03.007
更新日期:2019-05-01 00:00:00
abstract::Based on its map position, polymorphism pattern, and expression in the kidney, the gene encoding liver 20,000-30,000 MW protein 4 (LTW4) can be considered a potential candidate for the Jckm2 modifying locus, which mediates the severity of polycystic kidney disease in the juvenile cystic kidney mouse. Using two-dimensi...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1997.4762
更新日期:1997-06-15 00:00:00
abstract::Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1999.5796
更新日期:1999-05-01 00:00:00
abstract::Non-coding RNA (ncRNA) is a kind of RNA, produced by genomic transcription and does not encode protein, but can regulate the function of genes, thus widely regulating pathological and physiological processes. The dynamic balance of the reticular structure between them is needed to regulate the homeostasis, the abnorma...
journal_title:Genomics
pub_type: 杂志文章,评审
doi:10.1016/j.ygeno.2019.10.006
更新日期:2020-03-01 00:00:00
abstract::Palmitoyl-protein thioesterase (PPT) is a small glycoprotein that removes palmitate groups from cysteine residues in lipid-modified proteins. We recently reported mutations in PPT in patients with infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disorder (J. Vesa et al., 1995, Nature 376: 58...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1006/geno.1996.0292
更新日期:1996-06-15 00:00:00
abstract::Use of mixed models is in the spotlight as an emerging method for genome-wide association studies (GWASs). This study investigated the statistical power for identifying nucleotide variants associated with quantitative traits using the mixed model methodology. Quantitative traits were simulated through design of herita...
journal_title:Genomics
pub_type: 杂志文章
doi:10.1016/j.ygeno.2014.11.001
更新日期:2015-01-01 00:00:00