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 has prompted us to hybridize the aforementioned to the members of the hominoid clade (chimpanzee, gorilla, and orangutan), using the fluorescence in-situ hybridization technique. Inconsistencies in the hybridization pattern for the D1Z2 DNA probe in the great ape species suggests that changes in this sequence have apparently taken place during the evolutionary process. No hybridization signal was observed in the orangutan chromosome 1, suggesting that a homologous D1Z2 DNA sequence may not be present in its genome, or that the sequence may be altered, rendering itself undetectable by human-derived DNA probes. Homology in the hybridization patterns for the DXZ4 probe in all three ape species illustrates that the sequence is apparently conserved. Such hybridization data provide some level of phylogenetic information on the recent ancestry of higher primates.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Samonte RV,Conte RA,Verma RSdoi
10.1007/s100380050108subject
Has Abstractpub_date
1999-01-01 00:00:00pages
57-9issue
1eissn
1434-5161issn
1435-232Xjournal_volume
44pub_type
杂志文章abstract::Lafora disease (LD) is a rare autosomal recessive genetic disorder characterized by epilepsy, myoclonus, and progressive neurological deterioration. LD is caused by mutations in the EMP2A gene encoding a protein phosphatase. A second gene for LD, termed NHLRC1 and encoding a putative E3 ubiquitin ligase, was recently ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-005-0263-7
更新日期:2005-01-01 00:00:00
abstract::In Table 2, a column heading was inadvertently omitted. Corrected table is as follows. ...
journal_title:Journal of human genetics
pub_type: 已发布勘误
doi:10.1007/s10038-008-0256-4
更新日期:2008-04-01 00:00:00
abstract::Vinyl chloride (VC) is a human carcinogen known to undergo metabolism by cytochrome P450 2E1 (CYP2E1) to reactive intermediates that can cause oncogene and tumor suppressor gene mutations and that are further metabolized by acetaldehyde dehydrogenase (ALDH2) and glutathione-S-transferases (GSTs) to non-mutagenic end p...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0134-5
更新日期:2007-01-01 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::The INPPL1 (inositol polyphosphate phosphatase-like 1) gene encodes the inositol phosphatase, SHIP2 (for src homology 2 domain-containing inositol phosphatase 2). SHIP2 functions to dephosphorylate, and negatively regulate, the lipid second messenger phosphatidylinositol (3,4,5)P3. SHIP2 has been well studied in the a...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2016.119
更新日期:2017-02-01 00:00:00
abstract::Valproic acid is an anticonvulsant and mood-stabilizing drug used primarily in the treatment of epilepsy and bipolar disorder. Adverse effects of valproic acid are rare, but hepatotoxicity is severe in particular in those younger than 2 years old and polytherapy. During valproic acid treatment, it is difficult for pre...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2017.91
更新日期:2017-12-01 00:00:00
abstract::Obesity is a major public health concern in Mexico and worldwide. Although the estimated heritability is high, common variants identified by genome-wide association studies explain only a small proportion of this heritability. A combination of linkage and association strategies could be a more robust and powerful appr...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.145
更新日期:2017-03-01 00:00:00
abstract::As the mouse nasal embryonic LHRH factor gene (Nelf) encodes a guidance molecule for the migration of the olfactory axon and gonadotropin-releasing hormone neurons, its human homolog, NELF, is a candidate gene for Kallmann syndrome, a disease of idiopathic hypogonadotropic hypogonadism (IHH) with anosmia or hyposmia. ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0137-4
更新日期:2004-01-01 00:00:00
abstract:UNLABELLED:Gastrointestinal (GI) cancer is responsible for the majority of deaths among all types of cancer. Lifestyle factors may not only be the main risk factor for GI cancer but reactive oxygen species (ROS) may also be involved. The single-nucleotide polymorphisms (SNPs) 609C>T (rs1800566) and 465C>T (rs1131341) i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2014.38
更新日期:2014-07-01 00:00:00
abstract::Hypercholesterolemia is caused by different interactions of lifestyle and genetic determinants. At the genetic level, it can be attributed to the interactions of multiple polymorphisms, or as in the example of familial hypercholesterolemia (FH), it can be the result of a single mutation. A large number of genetic mark...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.34
更新日期:2012-06-01 00:00:00
abstract::A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characterize the role of genetic variants in 9p21.3 in African American in...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.171
更新日期:2011-03-01 00:00:00
abstract::A growing list of membrane-spanning proteins involved in the transport of a large variety of drugs has been recognized and characterized to include peptide and organic anion/cation transporters. Given such an important role of transporter genes in drug disposition process, the role of single-nucleotide polymorphisms (...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.77
更新日期:2011-09-01 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::Genome-wide association studies (GWAS) have identified many susceptibility loci for cardiometabolic disorders. Most of the associated variants reside in non-coding regions of the genome including long non-coding RNAs (lncRNAs), which are thought to play critical roles in diverse biological processes. Here, we leverage...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-017-0403-x
更新日期:2018-04-01 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::Although many studies have been performed to identify mutations in Korean patients with various autosomal-recessive Mendelian disorders (AR-MDs), little is known about the carrier frequencies of AR-MDs in the Korean population. Twenty common mutations from six AR-MDs, including Wilson disease (WD), non-syndromic heari...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.144
更新日期:2012-02-01 00:00:00
abstract::Mutations of OCRL cause Lowe syndrome, which is characterised by congenital cataracts, infantile hypotonia with mental retardation, and renal tubular dysfunction and Dent-2 disease, which only affects the kidney. While few patients with an intermediate phenotype between these diseases have been reported, the mechanism...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-0773-3
更新日期:2020-10-01 00:00:00
abstract::Pyle disease (PYL) is an extremely rare disorder of irregular development of long bone. Recently, homozygous mutations in secreted frizzled-related protein 4 gene (SFRP4) gene were found to underlie this condition. Sequencing of coding regions of SFRP4 gene from an 11-year-old female with PYL was performed. A novel ho...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.166
更新日期:2017-04-01 00:00:00
abstract::Trisomy 18 (T18) and trisomy 13 (T13) are major concerns in prenatal genetic testing due to their poor prognosis; very low birth weight (VLBW) is also a concern in neonatology. The aim of this study was to investigate the mortality and morbidity of VLBW infants diagnosed with T18/T13 in Japan, compared with those with...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-020-00825-6
更新日期:2021-03-01 00:00:00
abstract::mRNA is an important tool to study the effects of particular mutations on the mode of splicing and transcripts. However, it is often difficult to isolate mRNA because the organ or tissue in which the gene is expressed cannot be sampled. We previously identified two probable splicing mutations (c.6485+5G>A and c.8559-2...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.83
更新日期:2010-10-01 00:00:00
abstract::Plasma lipoprotein-associated phospholipase A2 (Lp-PLA2), also known as platelet-activating factor (PAF) acetylhydrolase (PAF-AH), is a member of the serine-dependent class of A2 phospholipases that hydrolyze sn2-ester bonds of fragmented or oxidized phospholipids at sites where atherosclerotic plaques are forming. Mo...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0151-6
更新日期:2004-01-01 00:00:00
abstract::Schizophrenia is a highly complex inheritable disease characterized by numerous genetic susceptibility elements, each contributing a modest increase in risk for the disease. Although numerous linkage or association studies have identified a large set of schizophrenia-associated loci, many are controversial. In additio...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.24
更新日期:2010-05-01 00:00:00
abstract::A few mutations in the gene encoding the gamma 2 subunit of the gamma-aminobutyric acid receptor type A (GABRG2) have been reported in various types of epilepsy. The aim of this study is to investigate the role of GABRG2 in the pathogenesis of childhood epilepsy in a large Japanese cohort. Genetic analysis of GABRG2 w...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.47
更新日期:2010-06-01 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::Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disorder mainly caused by defects in the steroid 21-hydroxylase (CYP21) gene. More than 90% of CAH cases are caused by mutations of the CYP21 gene. Approximately 75% of the defective CYP21 genes are generated through intergenic recombination, termed ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200077
更新日期:2002-01-01 00:00:00
abstract::Fragile X syndrome (FXS) is a neurodevelopmental disorder and a leading monogenic form of cognitive impairment and autism. It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females. It is caused by the instability and subsequent expansion of the CGG re...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.140
更新日期:2011-01-01 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::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
doi:10.1038/jhg.2012.96
更新日期:2012-11-26 00:00:00
abstract::Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0271-5
更新日期:2008-01-01 00:00:00
abstract::Type 2 diabetes mellitus (T2DM) is a group of multifactorial disorders due to either defective insulin secretion or action. Despite the fact that numerous genetic researches of T2DM have been pursued, the pathogenic mechanisms remain obscure. We encountered a T2DM family associated with a balanced reciprocal transloca...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0158-z
更新日期:2004-01-01 00:00:00