Abstract:
:The past decade has seen great advances in unraveling the biological basis of hereditary ataxias. Molecular studies of spinocerebellar ataxias (SCA) have extended our understanding of dominant ataxias. Causative genes have been identified for a few autosomal recessive ataxias: Friedreich's ataxia, ataxia with vitamin E deficiency, ataxia telangiectasia, recessive spastic ataxia of Charlevoix-Saguenay and ataxia with oculomotor apraxia type 1 (refs. 6,7) and type 2 (ref. 8). Nonetheless, genes remain unidentified for most recessive ataxias. Additionally, pure cerebellar ataxias, which represent up to 20% of all ataxias, remain poorly studied with only two causative dominant genes being described: CACNA1A (ref. 9) and SPTBN2 (ref. 10). Here, we report a newly discovered form of recessive ataxia in a French-Canadian cohort and show that SYNE1 mutations are causative in all of our kindreds, making SYNE1 the first identified gene responsible for a recessively inherited pure cerebellar ataxia.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Gros-Louis F,Dupré N,Dion P,Fox MA,Laurent S,Verreault S,Sanes JR,Bouchard JP,Rouleau GAdoi
10.1038/ng1927subject
Has Abstractpub_date
2007-01-01 00:00:00pages
80-5issue
1eissn
1061-4036issn
1546-1718pii
ng1927journal_volume
39pub_type
杂志文章相关文献
NATURE GENETICS文献大全abstract::Ataxia with isolated vitamin E deficiency (AVED) is an autosomal recessive neurodegenerative disease which maps to chromosome 8q13. AVED patients have an impaired ability to incorporate alpha-tocopherol into lipoproteins secreted by the liver, a function putatively attributable to the alpha-tocopherol transfer protein...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0295-141
更新日期:1995-02-01 00:00:00
abstract::Acute promyelocytic leukaemia (APL), associated with chromosomal translocations involving the retinoic acid receptor alpha gene (RARA) and the PML gene, is sensitive to retinoic acid (RA) treatment, while APL patients harbouring translocations between RARA and the PLZF gene do not respond to RA. We have generated PML-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0298-126
更新日期:1998-02-01 00:00:00
abstract::Mitochondrial DNA (mtDNA)-depletion syndromes (MDS; OMIM 251880) are phenotypically heterogeneous, autosomal-recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of MDS have early progressive liver failure and neurological abnormalities,...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng746
更新日期:2001-11-01 00:00:00
abstract::Dentinogenesis imperfecta 1 (DGI1, MIM 125490) is an autosomal dominant dental disease characterized by abnormal dentin production and mineralization. The DGI1 locus was recently refined to a 2-Mb interval on 4q21 (ref. 1). Here we study three Chinese families carrying DGI1. We find that the affected individuals of tw...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/84848
更新日期:2001-02-01 00:00:00
abstract::Urolithiasis is one of the most common urologic diseases in industrialized societies. Calcium oxalate is the predominant component in 70-80% of kidney stones, and small changes in urinary oxalate concentration affect the risk of stone formation. SLC26A6 is an anion exchanger expressed on the apical membrane in many ep...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1762
更新日期:2006-04-01 00:00:00
abstract::Studies in experimental systems have identified a multitude of mutational mechanisms including DNA replication infidelity and DNA damage followed by inefficient repair or replicative bypass. However, the relative contributions of these mechanisms to human germline mutation remain unknown. Here, we show that error-pron...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-018-0285-7
更新日期:2019-01-01 00:00:00
abstract::Overgrowth disorders are a heterogeneous group of conditions characterized by increased growth parameters and other variable clinical features such as intellectual disability and facial dysmorphism. To identify new causes of human overgrowth, we performed exome sequencing in ten proband-parent trios and detected two d...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2917
更新日期:2014-04-01 00:00:00
abstract::From chromosomal region 17q21.3, where a tumour suppressor gene(s) for breast and ovarian cancers is thought to be present, we have isolated a novel gene from a cosmid clone that revealed somatic rearrangements in two breast cancers. The gene (MDC) encodes a 524-amino acid metalloprotease-like, disintegrin-like and cy...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1093-151
更新日期:1993-10-01 00:00:00
abstract::Studying consanguineous families with Ghosal hematodiaphyseal dysplasia syndrome (GHDD), a disorder of increased bone density, we identified mutations in TBXAS1, which encodes thromboxane synthase (TXAS). TXAS, an enzyme of the arachidonic acid cascade, produces thromboxane A(2) (TXA(2)). Platelets from subjects with ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2007.66
更新日期:2008-03-01 00:00:00
abstract::Nearly all cases of fragile X syndrome result from expansion of a CGG trinucleotide repeat found in the 5' untranslated portion of the FMR1 gene. Methylation of the expanded repeats correlates with down-regulation of transcription of FMR1; thus fragile X syndrome is postulated to be due to a loss of function of the FM...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0895-483
更新日期:1995-08-01 00:00:00
abstract::As genetic marker maps have improved, multipoint linkage analysis has become a crucial part of all disease mapping studies. Paradoxically, multipoint lod scores become increasingly difficult to compute, particularly as the numbers of markers, marker alleles and untyped people increase. We have solved this problem by u...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1295-402
更新日期:1995-12-01 00:00:00
abstract:: ...
journal_title:Nature genetics
pub_type: 评论,信件
doi:10.1038/s41588-018-0235-4
更新日期:2018-12-01 00:00:00
abstract::Focal dermal hypoplasia is an X-linked dominant disorder characterized by patchy hypoplastic skin and digital, ocular and dental malformations. We used array comparative genomic hybridization to identify a 219-kb deletion in Xp11.23 in two affected females. We sequenced genes in this region and found heterozygous and ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng2057
更新日期:2007-07-01 00:00:00
abstract::Monogenic causes of autoimmunity provide key insights into the complex regulation of the immune system. We report a new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes. These find...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.3040
更新日期:2014-08-01 00:00:00
abstract::Type 1 diabetes (T1D) is a common autoimmune disorder that arises from the action of multiple genetic and environmental risk factors. We report the findings of a genome-wide association study of T1D, combined in a meta-analysis with two previously published studies. The total sample set included 7,514 cases and 9,045 ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.381
更新日期:2009-06-01 00:00:00
abstract::The pathogenesis of Bacillus anthracis, the bacterium that causes anthrax, depends on secretion of three factors that combine to form two bipartite toxins. Edema toxin, consisting of protective antigen (PA) and edema factor (EF), causes the edema associated with cutaneous anthrax infections, whereas lethal toxin (LeTx...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1724
更新日期:2006-02-01 00:00:00
abstract::New genetic data has enabled scientists to re-examine the relationship between human genetic variation and 'race'. We review the results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift. Analysis of many loci now ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1435
更新日期:2004-11-01 00:00:00
abstract::Here we report the discovery of oncogenic mutations in the Hedgehog and mitogen-activated protein kinase (MAPK) pathways in over 80% of ameloblastomas, locally destructive odontogenic tumors of the jaw, by genomic analysis of archival material. Mutations in SMO (encoding Smoothened, SMO) are common in ameloblastomas o...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2986
更新日期:2014-07-01 00:00:00
abstract::The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitina...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.2323
更新日期:2012-06-10 00:00:00
abstract::Retinitis pigmentosa is an untreatable, inherited retinal disease that leads to blindness. The disease initiates with the loss of night vision due to rod photoreceptor degeneration, followed by irreversible, progressive loss of cone photoreceptor. Cone loss is responsible for the main visual handicap, as cones are ess...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1386
更新日期:2004-07-01 00:00:00
abstract::The genetic basis of most conditions characterized by congenital contractures is largely unknown. Here we show that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome (FSS), one of the most severe multiple congenital contracture (that is, arthrogryposis) syndromes, and nearly one-...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng1775
更新日期:2006-05-01 00:00:00
abstract::The rate at which allelic diversity at the HLA loci evolves has been the subject of considerable controversy. The patchwork pattern of sequence polymorphism within the second exon of the HLA class II loci, particularly in the DPB1 locus, may have been generated by segmental exchange (gene conversion). We have analysed...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng0895-407
更新日期:1995-08-01 00:00:00
abstract::Sudden cardiac death from ventricular fibrillation during acute myocardial infarction is a leading cause of total and cardiovascular mortality. To our knowledge, we here report the first genome-wide association study for this trait, conducted in a set of 972 individuals with a first acute myocardial infarction, 515 of...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.623
更新日期:2010-08-01 00:00:00
abstract::Chromosome region 1q21.1 contains extensive and complex low-copy repeats, and copy number variants (CNVs) in this region have recently been reported in association with congenital heart defects, developmental delay, schizophrenia and related psychoses. We describe 21 probands with the 1q21.1 microdeletion and 15 proba...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.279
更新日期:2008-12-01 00:00:00
abstract::Using microarrays, we identified de novo copy number variations in the SHANK2 synaptic scaffolding gene in two unrelated individuals with autism-spectrum disorder (ASD) and mental retardation. DNA sequencing of SHANK2 in 396 individuals with ASD, 184 individuals with mental retardation and 659 unaffected individuals (...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.589
更新日期:2010-06-01 00:00:00
abstract::Pelger-Huët anomaly (PHA; OMIM *169400) is an autosomal dominant disorder characterized by abnormal nuclear shape and chromatin organization in blood granulocytes. Affected individuals show hypolobulated neutrophil nuclei with coarse chromatin. Presumed homozygous individuals have ovoid neutrophil nuclei, as well as v...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng925
更新日期:2002-08-01 00:00:00
abstract::To search for sequence variants conferring risk of nonmedullary thyroid cancer, we focused our analysis on 22 SNPs with a P < 5 × 10(-8) in a genome-wide association study on levels of thyroid stimulating hormone (TSH) in 27,758 Icelanders. Of those, rs965513 has previously been shown to associate with thyroid cancer....
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng.1046
更新日期:2012-01-22 00:00:00
abstract::Transcription is a slow and expensive process: in eukaryotes, approximately 20 nucleotides can be transcribed per second at the expense of at least two ATP molecules per nucleotide. Thus, at least for highly expressed genes, transcription of long introns, which are particularly common in mammals, is costly. Using data...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/ng940
更新日期:2002-08-01 00:00:00
abstract::Low-coverage whole-genome sequencing followed by imputation has been proposed as a cost-effective genotyping approach for disease and population genetics studies. However, its competitiveness against SNP arrays is undermined because current imputation methods are computationally expensive and unable to leverage large ...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/s41588-020-00756-0
更新日期:2021-01-01 00:00:00
abstract::Impaired testicular descent (cryptorchidism) is one of the most frequent congenital abnormalities in humans, involving 2% of male births. Cryptorchidism can result in infertility and increases risk for development of germ-cell tumours. Testicular descent from abdomen to scrotum occurs in two distinct phases: the trans...
journal_title:Nature genetics
pub_type: 杂志文章
doi:10.1038/10364
更新日期:1999-07-01 00:00:00