Abstract:
:To determine factors governing triplet repeat expansion at FMR1, we need to understand the basis of normal variation. We have sequenced the FMR1 repeat from 102 normal X chromosomes and show that most are interrupted with a regularly spaced AGG trinucleotide giving an ordered structure to the array. Five types of arrays were identified consisting of varying numbers of a core unit with consensus [AGG(CGG)9]. Additional variation in the length of the (CGG)n portion within each unit generates the continuum of lengths seen on normal chromosomes. Ten per cent contain long, uninterrupted tracts of (CGG)n, and their lengths suggest they have arisen by the loss of AGG triplets from longer interrupted arrays. Haplotype analysis of arrays carrying long, uninterrupted (CGG)n tracts suggests that they occur more frequently on genetic backgrounds which are more highly represented on fragile X chromosomes. These arrays may well be precursors from which the larger fragile X associated arrays have arisen by further expansion.
journal_name
Hum Mol Genetjournal_title
Human molecular geneticsauthors
Hirst MC,Grewal PK,Davies KEdoi
10.1093/hmg/3.9.1553subject
Has Abstractpub_date
1994-09-01 00:00:00pages
1553-60issue
9eissn
0964-6906issn
1460-2083journal_volume
3pub_type
杂志文章abstract::The near completeness of human chromosome sequences is facilitating accurate characterization and assessment of all classes of genomic variation. Particularly, using the DNA reference sequence as a guide, genome scanning technologies, such as microarray-based comparative genomic hybridization (array CGH) and genome-wi...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
doi:10.1093/hmg/ddl057
更新日期:2006-04-15 00:00:00
abstract::To identify a gene responsible for multiple endocrine neoplasia type 1 (MEN1), we attempted to isolate potentially transcribable fragments from cosmid clones derived from a region on chromosome 11q13 where genetic linkage studies and analyses of loss of heterozygosity in MEN1-associated tumors have localized the MEN1 ...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:1994-03-01 00:00:00
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更新日期:2005-01-01 00:00:00
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pub_type: 杂志文章,评审
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journal_title:Human molecular genetics
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更新日期:1997-10-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddl478
更新日期:2007-02-01 00:00:00
abstract::Mutations in the WNK1 gene cause Gordon's syndrome, a rare Mendelian form of hypertension. We assessed whether common WNK1 variants might also contribute to essential hypertension (EH), a multifactorial disorder affecting > 25% of the adult population worldwide. A panel of 19 single nucleotide polymorphisms (SNPs) spa...
journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2005-07-01 00:00:00
abstract::T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates. Here, we report that the loss of Tbx1 in mouse (Tbx1(-/-)) results in skeletal abnormalitie...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddu458
更新日期:2015-01-15 00:00:00
abstract::F1Fo-ATP synthase is a key enzyme of mitochondrial energy provision producing most of cellular ATP. So far, mitochondrial diseases caused by isolated disorders of the ATP synthase have been shown to result from mutations in mtDNA genes for the subunits ATP6 and ATP8 or in nuclear genes encoding the biogenesis factors ...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddq254
更新日期:2010-09-01 00:00:00
abstract::Manipulation of the mouse genome by site-specific mutagenesis has been extensively used to study gene function and model human disorders. Mouse models of myotubular myopathy (XLMTM), a severe congenital muscular disorder due to loss-of-function mutations in the MTM1 gene, have been generated by homologous recombinatio...
journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddt038
更新日期:2013-05-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddy035
更新日期:2018-04-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/7.8.1207
更新日期:1998-08-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
doi:10.1093/hmg/ddx078
更新日期:2017-06-15 00:00:00
abstract::Spliceosomal Uridine-rich small ribonucleo protein (U snRNP) assembly is an active process mediated by the macromolecular survival motor neuron (SMN) complex. This complex contains the SMN protein and six additional proteins, named Gemin2-7, according to their localization to nuclear structures termed gems. Here, we p...
journal_title:Human molecular genetics
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更新日期:2005-10-15 00:00:00
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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更新日期:1996-04-01 00:00:00
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abstract::Genome-wide association studies and, more recently, next-generation sequencing studies have accelerated the investigation of complex human traits by providing a wealth of association data linking genetic variants to diseases and other phenotypic traits. These data promise to transform our understanding of the molecula...
journal_title:Human molecular genetics
pub_type: 杂志文章,评审
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更新日期:2012-10-15 00:00:00
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journal_title:Human molecular genetics
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更新日期:2014-11-15 00:00:00
abstract::Bitter taste perception is initiated by TAS2R receptors, which respond to agonists by triggering depolarization of taste bud cells. Mutations in TAS2Rs are known to affect taste phenotypes by altering receptor function. Evidence that TAS2Rs overlap in ligand specificity suggests that they may also contribute joint eff...
journal_title:Human molecular genetics
pub_type: 临床试验,杂志文章
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更新日期:2011-09-01 00:00:00
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journal_title:Human molecular genetics
pub_type: 杂志文章
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更新日期:2013-02-15 00:00:00
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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journal_title:Human molecular genetics
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更新日期:2016-11-01 00:00:00