Abstract:
:The 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA; Online Mendelian Inheritance in Man [OMIN] #117210) is one of the most common ADCAs in Japan. Previously, we had reported that the patients share a common haplotype by founder effect and that a C-to-T substitution (-16C>T) in the puratrophin-1 gene was strongly associated with the disease. However, recently, an exceptional patient without the substitution was reported, indicating that a true pathogenic mutation might be present elsewhere. In this study, we clarified the disease locus more definitely by the haplotype analysis of families showing pure cerebellar ataxia. In addition to microsatellite markers, the single nucleotide polymorphisms (SNPs) that we identified on the disease chromosome were examined to confirm the borders of the disease locus. The analysis of 64 families with the -16C>T substitution in the puratrophin-1 gene revealed one family showing an ancestral recombination event between SNP04 and SNP05 on the disease chromosome. The analysis of 22 families without identifiable genetic mutations revealed another family carrying the common haplotype centromeric to the puratrophin-1 gene, but lacking the -16C>T substitution in this gene. We concluded that the disease locus of 16q-ADCA was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Amino T,Ishikawa K,Toru S,Ishiguro T,Sato N,Tsunemi T,Murata M,Kobayashi K,Inazawa J,Toda T,Mizusawa Hdoi
10.1007/s10038-007-0154-1subject
Has Abstractpub_date
2007-01-01 00:00:00pages
643-649issue
8eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-007-0154-1journal_volume
52pub_type
杂志文章abstract::The transcriptional factor nuclear factor kappa-beta (NFKB) consists of a multicomponent protein complex that plays a major role in the regulation of many viral and cellular genes. The NFKB complex has two alternative DNA binding subunits. We isolated a polymorphic dinucleotide (CA) repeat sequence from a genomic clon...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050125
更新日期:1999-01-01 00:00:00
abstract::Tissue factor (TF) is important for initiation of coagulation and for the increased thrombin activity observed at sites of inflammation. Thrombin activity is induced by allergen challenge in asthmatic airways and is involved in the pathogenesis of asthma. A -603A --> G polymorphism (rs1361600) in the promoter region o...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.4
更新日期:2010-03-01 00:00:00
abstract::De novo dominant mutations in the aldehyde dehydrogenase 18 family member A1 (ALDH18A1) gene have recently been shown to cause autosomal dominant cutis laxa with progeroid features (MIM 616603). To date, all de novo dominant mutations have been found in a single highly conserved amino acid residue at position p.Arg138...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2017.18
更新日期:2017-06-01 00:00:00
abstract::Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-r...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.8
更新日期:2015-04-01 00:00:00
abstract::Genome-wide association studies (GWAS) are being conducted to identify common genetic variants that predispose to human diseases to unravel the genetic etiology of complex human diseases now. Because of genotyping cost constraints, it often follows a two-stage design, in which a large number of markers are identified ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0177-7
更新日期:2007-01-01 00:00:00
abstract::Osteoprotegerin (OPG), a secreted glycoprotein and a member of the tumor necrosis factor receptor superfamily, is considered to play an important role in the regulation of bone resorption by modifying osteoclast differentiation. Overexpression of OPG in mice has been reported to result in osteopetrosis, whereas target...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200058
更新日期:2002-01-01 00:00:00
abstract::Molecular diagnosis of genetic bone dysplasia is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of bone dysplasia and evaluate the contribution of these genes to patients with bone dysplasia encountered in pediatric endocrinology....
journal_title:Journal of human genetics
pub_type: 临床试验,杂志文章
doi:10.1038/jhg.2015.112
更新日期:2015-12-01 00:00:00
abstract::We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/d...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-002-8653-6
更新日期:2002-01-01 00:00:00
abstract::Bradycardia is a trigger of ventricular arrhythmias in patients with arrhythmia including Brugada syndrome and long QT syndrome. The HCN4 channel controls the heart rate, and its mutations predispose to inherited sick sinus syndrome and long QT syndrome associated with bradycardia. We found a 4 base-insertion at the s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2008.16
更新日期:2009-02-01 00:00:00
abstract::Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0026-0
更新日期:2006-01-01 00:00:00
abstract::Defects in the mitochondrial translation apparatus can impair energy production in affected tissues and organs. Most components of this apparatus are encoded by nuclear genes, including GFM2, which encodes a mitochondrial ribosome recycling factor. A few patients with mutations in some of these genes have been reporte...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.57
更新日期:2015-09-01 00:00:00
abstract::The widely used Western BRCA mutation prediction models underestimated the risk of having a BRCA mutation in Korean breast cancer patients. This study aimed to identify predictive factors for BRCA1/2 mutations and to develop a Korean BRCA risk calculator. The model was constructed by logistic regression model, and it ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.164
更新日期:2016-05-01 00:00:00
abstract::Inborn errors of metabolism can cause epileptic encephalopathies. Biallelic loss-of-function variants in the ITPA gene, encoding inosine triphosphate pyrophosphatase (ITPase), have been reported in epileptic encephalopathies with lack of myelination of the posterior limb of the internal capsule, brainstem tracts, and ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0765-3
更新日期:2020-09-01 00:00:00
abstract::The prefrontal cortex has been implicated in schizophrenia (SZ) and affective disorders by gene expression studies. Owing to reciprocal connectivity, the thalamic nuclei and their cortical fields act as functional units. Altered thalamic gene expression would be expected to occur in association with cortical dysfuncti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.93
更新日期:2009-11-01 00:00:00
abstract::Chromosome 5, especially the 5q31-33 region, may contain one or more loci to control total serum IgE as well as asthma and bronchial hyperresponsiveness. To investigate the regions related with IgE level in chromosome 5, we performed a case-control association study on 105 high-IgE-level and 85 normal-IgE-level asthma...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0215-7
更新日期:2005-01-01 00:00:00
abstract::It is well-known that many members of the family of nuclear receptors have been implicated in human diseases, and metabolic disorders in particular. The NR4A nuclear receptor family consists of three members, Nur77, Nurr1, and NOR1. All of these are orphan receptors, and Nur77 and NOR1 exert possible pathological role...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1007/s10038-006-0085-2
更新日期:2007-01-01 00:00:00
abstract::We report a family with progressive myoclonic epilepsy who underwent whole-exome sequencing but was negative for pathogenic variants. Similar clinical courses of a devastating neurodegenerative phenotype of two affected siblings were highly suggestive of a genetic etiology, which indicates that the survey of genetic v...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0569-5
更新日期:2019-05-01 00:00:00
abstract::As the methodology of genetic detection has developed rapidly in recent years, through techniques such as genome-wide association studies (GWAS) and the secondary generation of sequencing, we are able to view the genomic landscape more clearly. It is well known that genes have a vital role in the pathogenesis of immun...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2015.99
更新日期:2015-11-01 00:00:00
abstract::BBS8 is one of the eight genes identified to date for Bardet-Biedl syndrome (BBS)-an autosomal recessive condition associated with retinitis pigmentosa, obesity, polydactyly, cognitive impairment and kidney failure. The identification of BBS8 gave the key to the pathogenesis of the condition as a primary ciliary disor...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0320-2
更新日期:2006-01-01 00:00:00
abstract::In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recomb...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2016.46
更新日期:2016-08-01 00:00:00
abstract::Behçet disease (BD) is an immune-mediated disease. The cause of BD remains unknown, but the existence of multiple pathological pathways is suspected, including different genetic factors. Polymorphisms in ERAP1 gene have been associated with an increased risk of BD. However, while current BD-associated ERAP1 variants a...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0709-y
更新日期:2020-03-01 00:00:00
abstract::WNK lysine-deficient protein kinase 1 (WNK1) is a member of the WNK family of serine/threonine kinases with no lysine (K), and these kinases have been implicated as important modulators of salt homeostasis in the kidney. It is well known that high dietary sodium and low dietary potassium have been implicated in the et...
journal_title:Journal of human genetics
pub_type: 杂志文章,随机对照试验
doi:10.1038/jhg.2009.64
更新日期:2009-08-01 00:00:00
abstract::A wide range of phenotypes have been reported in autosomal recessive (AR) Charcot-Marie-Tooth disease (CMT) patients carrying mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene, such as axonal, demyelinating, and intermediate forms of AR CMT. There have been very few reports of GDAP...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0249-3
更新日期:2008-01-01 00:00:00
abstract::Idiopathic pulmonary fibrosis (IPF) is a chronic, progressive lung disease that is refractory to treatment and carries a high mortality rate. IPF is frequently associated with lung cancer. Identification of molecular targets involved in both diseases may elucidate novel molecular mechanisms contributing to their patho...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.99
更新日期:2016-12-01 00:00:00
abstract::Prader-Willi syndrome (PWS) is primarily caused by deletions involving the paternally derived imprinted region at chromosome 15q11.2-q13 and maternal uniparental disomy 15 (upd(15)mat). The underlying mechanisms for upd(15)mat include trisomy rescue (TR), gamete complementation (GC), monosomy rescue and post-fertiliza...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.59
更新日期:2011-08-01 00:00:00
abstract::To conduct a long-term birth cohort study that includes genetic analysis, it is crucial to understand the attitudes of participants to genetic analysis and then take appropriate approaches for addressing their ambiguous and negative attitudes. This study aimed to explore participants' attitudes toward genetic analysis...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00894-7
更新日期:2021-01-25 00:00:00
abstract::Methylation-specific (MS) multiplex ligation-dependent probe amplification (MLPA) at two differentially methylated regions (DMRs) at chromosome 11p15, H19-DMR and LIT1-DMR, and microsatellite analysis for uniparental disomy (UPD) at chromosome 7 or 11, have been recommended for the genetic diagnosis of the Beckwith-Wi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.67
更新日期:2013-09-01 00:00:00
abstract::Genetic testing for BRCA1/2 mutations has become the standard clinical practice. Recent findings suggest the clinical significance of multigene panel testing of BRCA1/2 and other cancer-related genes. However, the clinical features of patients with breast cancer with germline mutations identified using multigene panel...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0729-7
更新日期:2020-07-01 00:00:00
abstract::GATA zinc finger domain-containing 2B (GATAD2B) is a subunit of the methyl-CpG-binding protein-1 complex (MECP1), which deacetylates methylated nucleosomes and regresses transcriptional activity. Recently, GATAD2B has been elucidated as a candidate gene in patients with intellectual disability (ID). In this study, we ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.164
更新日期:2017-04-01 00:00:00
abstract::This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050184
更新日期:1999-01-01 00:00:00