Abstract:
:A transcription map of the Huntington disease gene region was generated by a direct cDNA selection strategy using genomic DNA from the 4p16.3 region surrounding the D4S95 and D4S127 loci. A total of 58 cDNA fragments were obtained from cDNAs derived from fetal brain, frontal cortex, liver and bone marrow following hybridization to overlapping YACs from this region. These cDNA clones were aligned into transcription units by hybridization to specific mRNAs, by sequence overlap and by physical mapping onto overlapping YAC clones. Nine separate transcription units spanning approximately one megabase were detected by RNA hybridization. They represent a minimum number of genes in this region and do not include those genes expressed specifically in tissues not used for the hybridization. The transcription map that is provided by the cDNA segments will lead to the generation of a detailed gene map of this region.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Rommens JM,Lin B,Hutchinson GB,Andrew SE,Goldberg YP,Glaves ML,Graham R,Lai V,McArthur J,Nasir Jdoi
10.1093/hmg/2.7.901subject
Has Abstract,Author List Incompletepub_date
1993-07-01 00:00:00pages
901-7issue
7eissn
0964-6906issn
1460-2083journal_volume
2pub_type
杂志文章abstract::The RIG-I-like receptors (RLRs)--RIG-I, IFIH1 (or MDA5) and LGP2--are thought to be key actors in the innate immune system, as they play a major role in sensing RNA viruses in the cytosol of host cells. Despite the increasingly recognized importance of the RLR family in antiviral immunity, no population genetic studie...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr377
更新日期:2011-11-15 00:00:00
abstract::IGF2 loss of imprinting (LOI) is fairly prevalent and implicated in the pathogenesis of human cancer and developmental disease; however, the causes of this phenomenon are largely unknown. We determined whether the post-weaning diet of mice affects allelic expression and CpG methylation of Igf2. C57BL/6JxCast/EiJ F1 hy...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddi484
更新日期:2006-03-01 00:00:00
abstract::Mutations in gigaxonin were identified in giant axonal neuropathy (GAN), an autosomal recessive disorder. To understand how disruption of gigaxonin's function leads to neurodegeneration, we ablated the gene expression in mice using traditional gene targeting approach. Progressive neurological phenotypes and pathologic...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl069
更新日期:2006-05-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a progressive, fatal, neurodegenerative disease characterized by the loss of motor neurons. Motor neuron degeneration is probably both a cell autonomous and a non-autonomous event. Therefore, manipulating the diseased microenvironment via non-neural cell replacement could be a th...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq293
更新日期:2010-10-01 00:00:00
abstract::Gelsolin amyloidosis is a dominantly inherited, incurable type of amyloidosis. A single point mutation in the gelsolin gene (G654A is most common) results in the loss of a Ca2+ binding site in the second gelsolin domain. Consequently, this domain partly unfolds and exposes an otherwise buried furin cleavage site at t...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx056
更新日期:2017-04-01 00:00:00
abstract::The Taiwan Biobank (TWB) aims to build a nationwide research database that integrates genomic/epigenomic profiles, lifestyle patterns, dietary habits, environmental exposure history and long-term health outcomes of 300,000 residents of Taiwan. We describe here an investigation of the population structure of Han Chines...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw346
更新日期:2016-12-15 00:00:00
abstract::A large number of mutations in the gene encoding the catalytic subunit of mitochondrial DNA polymerase γ (POLγA) cause human disease. The Y955C mutation is common and leads to a dominant disease with progressive external ophthalmoplegia and other symptoms. The biochemical effect of the Y955C mutation has been extensiv...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq565
更新日期:2011-03-15 00:00:00
abstract::The tumour suppressor gene PTEN encodes a dual-specificity phosphatase that recognizes protein substrates and phosphatidylinositol-3,4,5-triphosphate. PTEN seems to play multiple roles in tumour suppression and the blockade of phosphoinositide-3-kinase signalling is important for its growth suppressive effects, althou...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/10.6.605
更新日期:2001-03-15 00:00:00
abstract::P/Q-type voltage-gated calcium channels are regulated, in part, through the cytoplasmic C-terminus of their alpha1A subunit. Genetic absence or alteration of the C-terminus leads to abnormal channel function and neurological disease. Here, we show that the terminal 60-75 kDa of the endogenous alpha1A C-terminus is cle...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl080
更新日期:2006-05-15 00:00:00
abstract::The FKHR gene, which contains a forkhead DNA-binding motif, is fused to either PAX3 or PAX7 by the t(2;13) or t(1;13) translocation in alveolar rhabdomyosarcoma,respectively. These tumors express chimeric transcripts encoding the N-terminal portion of either PAX protein fused to the C-terminal portion of FKHR. To unde...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/4.12.2355
更新日期:1995-12-01 00:00:00
abstract::Reduced sarcolemmal integrity in dystrophin-deficient muscles of mdx mice and Duchenne muscular dystrophy (DMD) patients has been reported to result in altered calcium homeostasis. Previous studies have shown a correlative relationship between calcium-dependent protease (calpain) activity in dystrophic muscle and musc...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.21.2645
更新日期:2002-10-01 00:00:00
abstract::The congenital malformation split hand/foot (SHFM) is characterized by missing central fingers and dysmorphology or fusion of the remaining ones. Type-1 SHFM is linked to deletions/rearrangements of the DLX5-DLX6 locus and point mutations in the DLX5 gene. The ectrodactyly phenotype is reproduced in mice by the double...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv514
更新日期:2016-02-15 00:00:00
abstract::CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome. CHARGE, an autosomal dominant syndrome, is known to affect multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs. Using a morpholino-antisense-oligonucleotide-based zebrafish mode...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw198
更新日期:2016-08-15 00:00:00
abstract::Great strides in gene discovery have been made using a multitude of methods to associate phenotypes with genetic variants, but there still remains a substantial gap between observed symptoms and identified genetic defects. Herein, we use the convergence of various genetic and genomic techniques to investigate the unde...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy310
更新日期:2018-12-15 00:00:00
abstract::Genomic data offer a goldmine of information for understanding the contribution of genetic variation makes to health and disease. The potential of genomic medicine, to predict, diagnose, manage and treat genetic disease, is underpinned by accurate variant interpretation. This in itself hinges on the ability to access ...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddy084
更新日期:2018-05-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a common pediatric neuromuscular disorder caused by insufficient levels of the survival of motor neuron (SMN) protein. Studies involving SMA patients and animal models expressing the human SMN2 gene have yielded relatively little information about the earliest cellular consequences of ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddn156
更新日期:2008-08-15 00:00:00
abstract::Autosomal dominant retinitis pigmentosa (adRP) is a heterogeneous set of progressive retinopathies caused by several distinct genes. One locus, the RP10 form of adRP, maps to human chromosome 7q31.1 and may account for 5-10% of adRP cases among Americans and Europeans. We identified two American families with the RP10...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.5.559
更新日期:2002-03-01 00:00:00
abstract::Periodontitis is a widespread, complex inflammatory disease of the mouth, which results in a loss of gingival tissue and alveolar bone, with aggressive periodontitis (AgP) as its most severe form. To identify genetic risk factors for periodontitis, we conducted a genome-wide association study in German AgP patients. W...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddp508
更新日期:2010-02-01 00:00:00
abstract::Fragile X syndrome (FXS), a common inherited form of intellectual disability with learning deficits, results from a loss of fragile X mental retardation protein (FMRP). Despite extensive research, treatment options for FXS remain limited. Since FMRP is known to play an important role in adult hippocampal neurogenesis ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddr501
更新日期:2012-02-01 00:00:00
abstract::The von Hippel-Lindau (VHL) tumour suppressorgene product is believed to be involved in the down-regulation of transcriptional elongation by preventing the association of elongin B and C with the catalytic subunit elongin A. Alterations in the human VHL gene lead to VHL disease which is associated with various rare ne...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:1999-02-01 00:00:00
abstract::Ribonuclease H2 plays an essential role for genome stability as it removes ribonucleotides misincorporated into genomic DNA by replicative polymerases and resolves RNA/DNA hybrids. Biallelic mutations in the genes encoding the three RNase H2 subunits cause Aicardi-Goutières syndrome (AGS), an early-onset inflammatory ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu319
更新日期:2014-11-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg008
更新日期:2003-01-01 00:00:00
abstract::We have studied the dynamics of mitochondrial DNA maintenance and segregation in human cells using serial cybrid transfer of partially duplicated mitochondrial DNA, from a mitochondrial myopathy patient, to two distinct recipient cell types. The results indicate two radically different outcomes dependent upon nuclear ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/6.8.1251
更新日期:1997-08-01 00:00:00
abstract::Although studies over the last decades have firmly connected a number of genes and molecular pathways to aging, the aging process as a whole still remains poorly understood. To gain novel insights into the mechanisms underlying aging, instead of considering aging genes individually, we studied their characteristics at...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw145
更新日期:2016-07-15 00:00:00
abstract::Primary pigmented nodular adrenocortical disease (PPNAD) is associated with inactivating mutations of the PRKAR1A tumor suppressor gene that encodes the regulatory subunit R1α of the cAMP-dependent protein kinase (PKA). In human and mouse adrenocortical cells, these mutations lead to increased PKA activity, which resu...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu265
更新日期:2014-10-15 00:00:00
abstract::Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy and is caused by loss-of-function mutations in the BSCL2/seipin gene. Exactly how seipin may regulate adipogenesis remains unclear. A recent study in vitro suggested that seipin may function to inhibit the activity...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddz300
更新日期:2020-02-01 00:00:00
abstract::Schwann cells are the myelinating glia of the peripheral nervous system and dysfunction of these cells causes motor and sensory peripheral neuropathy. The transcription factor SOX10 is critical for Schwann cell development and maintenance, and many SOX10 target genes encode proteins required for Schwann cell function....
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw233
更新日期:2016-09-15 00:00:00
abstract::Brugada syndrome (BrS) is an inherited cardiac arrhythmic disorder that can lead to sudden death, with a prevalence of 1:5000 in Caucasian population and affecting mainly male patients in their third to fourth decade of life. BrS is inherited as an autosomal dominant trait; however, to date genetic bases have been onl...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv302
更新日期:2015-10-15 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg025
更新日期:2003-02-01 00:00:00
abstract::Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity. Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/9.12.1813
更新日期:2000-07-22 00:00:00