Abstract:
:Approximately one-third of the mammalian genome is composed of highly repeated DNA sequences, of which the two major families, the long and short inter-spersed nucleotide elements (LINEs and SINEs), are represented in humans by L1 and Alu elements respectively. Both 'types of element are considered to be retrotransposable and to play significant roles in genomic function and evolution. The majority of inserted elements are truncated and often rearranged relative to full-length elements; usually, such retrotransposed sequences are flanked by target-site duplications of various lengths and contain 3' polyA tracts, common characteristics of retrotransposal integration. Retrotransposal integrations of Alu and L1 sequences into biologically important genes appear to play significant roles in some human diseases. Most of the inserted sequences that cause human diseases seem to belong to one or a few subsets of each type of retrotransposon, suggesting that only a few active elements can function as templates for retrotransposition. Integrations observed in oncogenes and in tumor suppressor genes may participate in carcinogenesis by altering the activity of the affected genes. The exact mechanism of these events is unclear; however, retrotransposal integration may be a general mechanism of mutation in humans.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Miki Ydoi
10.1007/s100380050045subject
Has Abstractpub_date
1998-01-01 00:00:00pages
77-84issue
2eissn
1434-5161issn
1435-232Xjournal_volume
43pub_type
杂志文章,评审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::Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...
journal_title:Journal of human genetics
pub_type: 杂志文章
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abstract::22q11.2 duplication syndrome has recently been established as a new syndrome manifesting broad clinical phenotypes including mental retardation. It is reciprocal to DiGeorge (DGS)/velo-cardio-facial syndrome (VCFS), in which the same portion of the chromosome is hemizygously deleted. Deletions and duplications of the ...
journal_title:Journal of human genetics
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doi:10.1038/jhg.2011.100
更新日期:2011-11-01 00:00:00
abstract::Using genome-editing technologies to correct specific mutations represents a potentially transformative new approach for treating genetic disorders. Despite rapid advances in the field of genome editing, it is still unclear whether the long-standing goal of in vivo targeted transgene integration is feasible. This is p...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
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更新日期:2018-02-01 00:00:00
abstract::We analyzed the mitochondrial DNA extracted from 14 human skeletal remains from the Doigahama site in Japan to clarify the genetic structure of the Doigahama Yayoi population and the relationship between burial style and kinship among individuals. The sequence types obtained in this study were compared with those of t...
journal_title:Journal of human genetics
pub_type: 历史文章,杂志文章
doi:10.1038/jhg.2009.81
更新日期:2009-10-01 00:00:00
abstract::The efficacy of pharmacological chaperone therapy for Fabry disease depends on the type of α-galactosidase A (GLA) mutations. Here, we examined the mutation spectrum of the GLA gene among patients from 115 Japanese families with Fabry disease. Of these, no pathogenic mutations were identified in six families (5.2%). I...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0599-z
更新日期:2019-07-01 00:00:00
abstract::The roles of the erythropoietin (Epo) 3' enhancer in the activation of gene expression in response to hypoxia were investigated. The enhancer contains hypoxia-inducible enhancer binding site 1 (HIF-1 element) and two direct repeats of hexanucleotide consensus nuclear receptor half site (HNF-4 element). HIF-1, which is...
journal_title:Journal of human genetics
pub_type: 杂志文章
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更新日期:1999-01-01 00:00:00
abstract::Deletion of exons 45-55 (del45-55) in the Duchenne muscular dystrophy gene (DMD) has gained particular interest in the field of molecular therapy, because it causes a milder phenotype than DMD, and therefore, may represent a good candidate for the goal of a multiple exon-skipping strategy. We have precisely characteri...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2008.8
更新日期:2009-02-01 00:00:00
abstract::The Mexican-Mestizo population arose following European contact with the Americas due to the admixture of principally Spaniards, Native Americans, and Africans around 500 years ago. Because the paternal lineage distribution of the Mexican population has been poorly investigated, this study inferred the haplogroups of ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00824-7
更新日期:2021-03-01 00:00:00
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0050-0
更新日期:2006-01-01 00:00:00
abstract::To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170012
更新日期:2001-01-01 00:00:00
abstract::The purpose of the present study was to understand the tissue specificity of DNA methylation and the relationship between methylation and expression of genes with essential roles in neurodevelopment and brain function. We chose dopamine receptor genes (DRD1 and DRD2), NCAM, and COMT as examples of genes with CpG islan...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0382-9
更新日期:2006-01-01 00:00:00
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0337-6
更新日期:2006-01-01 00:00:00
abstract::ORAI1 encodes a calcium channel essential in the store-operated calcium entry mechanism. A previous genetic association study identified a rare in-frame insertion variant of ORAI1 conferring Kawasaki disease (KD). To deepen our understanding of the involvement of rare variants of ORAI1 in KD pathogenesis, we investiga...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0588-2
更新日期:2019-06-01 00:00:00
abstract::Mutations in BRCA genes elevate risk for breast and ovarian cancer. These mutations are population specific. As there are no data on BRCA mutation screening on larger number of probands in Serbia to date, aim of this study was to determine types and frequencies of BRCA mutations in individuals from high-risk families ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.30
更新日期:2013-08-01 00:00:00
abstract::Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder that is clinically characterized by cerebellar ataxia and various associated symptoms. The disease is caused by an unstable expansion of the CAG repeat in the MJD gene. This gene is mapped to chromosome 14q32.1. To determine its genomic s...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170060
更新日期:2001-01-01 00:00:00
abstract::Plasma platelet-activating factor acetylhydrolase (PAF-AH) acts as a key defense against oxidative stress by hydrolyzing PAF and oxidized phospholipids. Deficiency of the activity of this enzyme may thus potentially result in predisposition to myocardial damage. The possible role of the G994 (V allele) --> T (F allele...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170042
更新日期:2001-01-01 00:00:00
abstract::Human Y-chromosomal binary polymorphisms have been considered to preserve the paternal genetic legacy and provide evidence on human evolution and the genetic relationships among and demographic history of different populations. To reveal the genetic origin and immigration of the Fujian Han, 13 binary markers on the Y ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200008
更新日期:2002-01-01 00:00:00
abstract::Multiple pterygium syndrome (MPS) is an autosomal recessively inherited condition that becomes evident before birth, with pterygium at multiple joints and akinesia. There are two forms of this syndrome that are differentiated by clinical severity: the milder form, Escobar type (OMIM#265000), and the more severe form, ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.2
更新日期:2015-04-01 00:00:00
abstract::Genetic and lifestyle factors are important in the pathogenesis of osteoporosis. We investigated the relationships of PvuII and XbaI polymorphisms of the estrogen receptor alpha (ER-alpha) gene, lifestyle factors with speed of sound at the calcaneus (calcaneal SOS) and osteoporosis in a population-based study of 140 h...
journal_title:Journal of human genetics
pub_type: 杂志文章
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更新日期:2006-01-01 00:00:00
abstract::Tuberous sclerosis (TS) is a rare autosomal-dominant genetic disease. TS is manifested by the development of multiple hamartomas, which affect brain, kidneys, retina, skin and other organs. This study aimed to reveal specific features of molecular epidemiology of TS in Russia. Blood DNA samples from 61 patients with d...
journal_title:Journal of human genetics
pub_type: 杂志文章
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更新日期:2018-05-01 00:00:00
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journal_title:Journal of human genetics
pub_type: 杂志文章
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0197-3
更新日期:2007-01-01 00:00:00
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journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050038
更新日期:1998-01-01 00:00:00
abstract::The mechanism of speciation has remained largely unresolved, and hominoid evolutionary history based on chromosome rearrangements has been continuously challenged. The recent availability of the human-derived chromosome 1-specific midisatellite (D1Z2) and chromosome X-specific macrosatellite (DXZ4) DNA sequence probes...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050108
更新日期:1999-01-01 00:00:00
abstract::Intracranial vertebral-basilar artery dissection (IVAD) is an arterial disorder leading to life-threatening consequences. Genetic factors are known to be causative to certain syndromic forms of IVAD. However, systematic study of the molecular basis of sporadic and isolated IVAD is lacking. To identify genetic variants...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0496-x
更新日期:2018-11-01 00:00:00
abstract::L-2-hydroxyglutaric aciduria (L2HGA) is an autosomal recessive neurometabolic disorder characterized essentially by the presence of elevated levels of L-2-hydroxyglutaric acid (LGA) in plasma, cerebrospinal fluid and urine. L2HGA is caused by a deficiency in the L2-Hydroxyglutaric dehydrogenase (L2HGDH) enzyme involve...
journal_title:Journal of human genetics
pub_type: 杂志文章
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更新日期:2014-04-01 00:00:00
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journal_title:Journal of human genetics
pub_type: 杂志文章
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更新日期:2001-01-01 00:00:00
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journal_title:Journal of human genetics
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更新日期:2004-01-01 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