Abstract:
:A cDNA for Fanconi anaemia complementation group C (FACC) has recently been cloned. We have now isolated a yeast artificial chromosome clone containing the FACC gene, and used vectorette PCR to determine its exon structure. The 1674-nucleotide coding sequence of the gene is highly interrupted, and contains 14 exons ranging in size from 53-204 bp. All exon donor and acceptor splice sites fit well with consensus sequences. Knowledge of the FACC exon boundaries and adjacent intron sequences was used to design polymerase chain reactions for amplification of all 14 exons from genomic DNA. Characterisation of splice site mutations in Fanconi anaemia patients with abnormal FACC transcripts and screening of large numbers of patients for mutations by amplification of the coding sequence from genomic DNA will now be possible.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Gibson RA,Buchwald M,Roberts RG,Mathew CGdoi
10.1093/hmg/2.1.35subject
Has Abstractpub_date
1993-01-01 00:00:00pages
35-8issue
1eissn
0964-6906issn
1460-2083journal_volume
2pub_type
杂志文章abstract::Germline mutations in the RB1 gene confer hereditary predisposition to retinoblastoma. The majority of these mutations occur de novo and differ from one patient to another. Cytogenetics and Southern blotting were shown to detect less than 15% of constitutional rearrangements. In this study we used the polymerase chain...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.7.975
更新日期:1993-07-01 00:00:00
abstract::The apolipoprotein A5 gene (APOA5 ) has been shown to play an important role in determining plasma triglyceride concentrations in humans. We describe here a novel variant, c.553G>T, in the apolipoprotein A5 gene that is associated with hypertriglyceridemia. In contrast to some other polymorphisms, which occur in non-c...
journal_title:Human molecular genetics
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abstract::DiGeorge syndrome (DGS) is the most common human chromosomal deletion syndrome and is frequently associated with deletions on chromosome 22q11. Approximately 17% of patients with the phenotypic features of this syndrome have no detectable genomic deletion. Animal studies using mouse models have implicated Tbx1 as a cr...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2005-04-01 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
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doi:10.1093/hmg/ddx056
更新日期:2017-04-01 00:00:00
abstract::Huntington's disease shares a common molecular basis with eight other neurodegenerative diseases, expansion of an existing polyglutamine tract. In each case, this repeat tract occurs within otherwise unrelated proteins. These proteins show widespread and overlapping patterns of expression in the brain and yet the dise...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2009-12-15 00:00:00
abstract::To maintain the female reproductive lifespan, the majority of ovarian primordial follicles are preserved in a quiescent state in order to provide ova for later reproductive life. However, the molecular mechanism that maintains the long quiescence of primordial follicles is poorly understood. Here we provide genetic ev...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2010-02-01 00:00:00
abstract::Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding P...
journal_title:Human molecular genetics
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更新日期:1999-06-01 00:00:00
abstract::Renal-coloboma syndrome, also known as papillorenal syndrome, is an autosomal dominant human disorder in which optic disc coloboma is associated with kidney abnormalities. Mutations in the paired domain transcription factor PAX2 have been found to be the underlying cause of this disease. Disease severity varies betwee...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2011-01-15 00:00:00
abstract::CREB-binding protein (CBP, CREBBP, KAT3A) and its closely related paralogue p300 (EP300, KAT3B), together termed p300/CBP, are histone/lysine acetyl-transferases that control gene expression by modifying chromatin-associated proteins. Here, we report roles for both of these chromatin-modifying enzymes in mouse sex det...
journal_title:Human molecular genetics
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doi:10.1093/hmg/ddx398
更新日期:2018-01-01 00:00:00
abstract::Williams-Beuren syndrome (WBS) is generally the consequence of an interstitial microdeletion at 7q11.23, which includes the elastin gene, thus causing hemizygosity at the elastin gene locus. The origin of the deletion has been reported by many authors to be maternal in approximately 60% and paternal in 40% of cases. S...
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更新日期:1996-12-01 00:00:00
abstract::Glutamine (Q) expansion diseases are a family of degenerative disorders caused by the lengthening of CAG triplet repeats present in the coding sequences of seemingly unrelated genes whose mutant proteins drive pathogenesis. Despite all the molecular evidence for the genetic basis of these diseases, how mutant poly-Q p...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds246
更新日期:2012-10-01 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::An improved understanding of the expression of the cystic fibrosis gene (CFTR) will assist our approach to preventing the organ damage caused by cystic fibrosis (CF). We have studied the expression of CFTR in human fetal tissues at different gestational ages using in situ hybridization to detect CFTR mRNA. CFTR was pr...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/2.3.219
更新日期:1993-03-01 00:00:00
abstract::Gene amplification plays a critical role in tumor progression. Hence, understanding the factors triggering this process in human cancers is an important concern. Unfortunately, the structures formed at early stages are usually unavailable for study, hampering the identification of the initiating events in tumors. Here...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.23.2887
更新日期:2002-11-01 00:00:00
abstract::Immunoglobulin-like domain containing receptor 1 (ILDR1) is a poorly characterized gene that was first identified in lymphoma cells. Recently, ILDR1 has been found to be responsible for autosomal recessive hearing impairment DFNB42. Patients with ILDR1 mutations cause bilateral non-progressive moderate-to-profound sen...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu340
更新日期:2014-12-01 00:00:00
abstract::Family history of endometrial cancer increases the risk of developing the disease, but it is still largely unknown which germ-line genetic factors are involved in the aetiology of endometrial cancer. In a Swedish population-based case-control study including 705 cases and 1565 controls, we examined common variation in...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl451
更新日期:2007-01-15 00:00:00
abstract::Human chromosome 15q11-13 is a complex locus containing imprinted genes as well as a cluster of three GABA(A) receptor subunit (GABR) genes-GABRB3, GABRA5 and GABRG3. Deletion or duplication of 15q11-13 GABR genes occurs in multiple human neurodevelopmental disorders including Prader-Willi syndrome (PWS), Angelman syn...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddm014
更新日期:2007-03-15 00:00:00
abstract::The integrity and dynamic properties of the microtubule cytoskeleton are indispensable for the development of the mammalian brain. Consequently, mutations in the genes that encode the structural component (the α/β-tubulin heterodimer) can give rise to severe, sporadic neurodevelopmental disorders. These are commonly r...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddw383
更新日期:2017-01-15 00:00:00
abstract::Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt mu...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/dds514
更新日期:2013-04-15 00:00:00
abstract::Elevated blood pressure (BP) is a major global risk factor for cardiovascular disease. Genome-wide association studies have identified several genetic variants at the NPR3 locus associated with BP, but the functional impact of these variants remains to be determined. Here we confirmed, by a genome-wide association stu...
journal_title:Human molecular genetics
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abstract::Sphingosine-1-phosphate (S1P) is a lipid-signaling molecule produced by sphingosine kinase in response to a wide number of stimuli. By acting through a family of widely expressed G protein-coupled receptors, S1P regulates diverse physiological processes. Here we examined the role of S1P signaling in neurodegeneration ...
journal_title:Human molecular genetics
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doi:10.1093/hmg/ddn126
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abstract::Osteoarthritis is a common, complex disease with no curative therapy. In this review, we summarize current knowledge on disease aetiopathogenesis and outline genetics and genomics approaches that are helping catalyse a much-needed improved understanding of the biological underpinning of disease development and progres...
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更新日期:2017-10-01 00:00:00
abstract::There are two known mRNA degradation pathways, 3' to 5' and 5' to 3'. We identified likely pathogenic variants in two genes involved in these two pathways in individuals with intellectual disability. In a large family with multiple branches, we identified biallelic variants in DCPS in three affected individuals; a spl...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddv069
更新日期:2015-06-01 00:00:00
abstract::Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq506
更新日期:2011-02-01 00:00:00
abstract::Recurrent, de novo, meiotic non-allelic homologous recombination events between low copy repeats, termed LCR22s, leads to the 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome/DiGeorge syndrome). Although most 22q11.2DS patients have a similar sized 3 million base pair (Mb), LCR22A-D deletion, some hav...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy028
更新日期:2018-04-01 00:00:00
abstract::Imprinting is an epigenetic mechanism leading to mono-allelic expression of imprinted genes. In order to inherit the differential epigenetic imprints from one generation to the next, these imprints have to be erased in the primordial germ cells and re-established in a sex-specific manner during gametogenesis. The exac...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddg315
更新日期:2003-11-15 00:00:00
abstract::We investigated the population differences in patterns of single nucleotide polymorphisms (SNPs) for a 400 kb olfactory receptor (OR) gene cluster on human chromosome 17p13.3. Samples were drawn from 35 individuals, of four different ethnogeographical origins: Pygmies, Bedouins, Yemenite Jews and Ashkenazi Jews. Of th...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/11.12.1381
更新日期:2002-06-01 00:00:00
abstract::A glaucoma locus, GLC1A, was identified previously on chromosome 1q. A gene within this locus (encoding the protein myocilin) subsequently was shown to harbor mutations in 2-4% of primary open angle glaucoma patients. A total of 1703 patients was screened from five different populations representing three racial group...
journal_title:Human molecular genetics
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更新日期:1999-05-01 00:00:00
abstract::The genes of the piwi family are defined by conserved PAZ and Piwi domains and play important roles in stem-cell self-renewal, RNA silencing and translational regulation in various organisms. Both, mouse and human Piwil2 genes, members of the piwi gene family, are specifically expressed in testis. We report here enhan...
journal_title:Human molecular genetics
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更新日期:2006-01-15 00:00:00
abstract::Hirschsprung disease (HSCR, aganglionic megacolon) is a frequent congenital malformation regarded as a multigenic neurocristopathy. Two susceptibility genes have been recently identified in HSCR, namely the RET proto-oncogene and the endothelin B receptor (EDNRB) gene. Hitherto however, homozygosity for EDNRB mutation...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/5.3.355
更新日期:1996-03-01 00:00:00