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 robust reconstruction of the evolutionary history of the Andamanese, we carried out a study on the three aboriginal populations, namely, the Great Andamanese, Onge and Nicobarese, using autosomal microsatellite markers. The range of alleles (7-31.2) observed in the studied population and heterozygosity values (0.392-0.857) indicate that the selected STR markers are highly polymorphic in all the three populations, and genetic variability within the populations is significantly high, with a mean gene diversity of 77%. The Andaman "Negrito" populations do not show particular affinities either with the African populations or with the Indian populations, confirming their unique origin. In contrast, Nicobarese show close affinities with the Southeast Asian populations, suggesting their recent entry in the Islands.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh Ldoi
10.1007/s10038-006-0026-0subject
Has Abstractpub_date
2006-01-01 00:00:00pages
800-804issue
9eissn
1434-5161issn
1435-232Xpii
10.1007/s10038-006-0026-0journal_volume
51pub_type
杂志文章abstract::The gene for Clara cell secretory protein (CC16) is an ideal candidate for investigating genetic predisposition to asthma because of its role in the airway as an anti-inflammatory molecule, differences in its levels between asthmatics and healthy controls, and its genetic location (11q13). We investigated the associat...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0206-8
更新日期:2004-01-01 00:00:00
abstract::Dyslipidemia and insulin resistance contribute to the endothelial cell dysfunction in hypertensive disorders of pregnancy (HDP) and increase the long-term risk of cardiovascular disease (CVD). The genes linking susceptibility to gestational hypertension (GH) and/or preeclampsia (PE) to the long-term risk of CVD are st...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0106-1
更新日期:2007-01-01 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::We intended to confirm genetically the involvement of the IDDMK1,2-22 gene in the pathogenesis of insulin-dependent diabetes mellitus (IDDM). For this purpose, we isolated a human endogenous retrovirus gene, possibly corresponding to IDDMK1,2-22. The isolated gene showed 99.8% and 99.7% homologies in nucleotide sequen...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050173
更新日期:1999-01-01 00:00:00
abstract::Hypertension and brachydactyly syndrome (HTNB) with short stature is an autosomal-dominant disorder. Mutations in the PDE3A gene located at 12p12.2-p11.2 were recently identified in HTNB families. We found a novel heterozygous missense mutation c.1336T>C in exon 4 of the PDE3A gene in a Japanese family with multiple H...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.32
更新日期:2016-08-01 00:00:00
abstract::There is evidence that the obesity phenotype in the Caucasian populations is associated with variations in several genes, including neuronal growth regulator 1 (NEGR1), SEC16 homolog B (SCE16B), transmembrane protein 18 (TMEM18), ets variant 5 (ETV5), glucosamine-6-phosphate deaminase 2 (GNPDA2), prolactin (PRL), brai...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.106
更新日期:2009-12-01 00:00:00
abstract::The expansion of polyalanine repeats is known to cause at least nine disorders, including congenital central hypoventilation syndrome (CCHS). Unequal crossover has been speculated as the expanding mechanism, in contrast to strand slippage in polyglutamine expansion disorders. We carried out segregation analysis of PHO...
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
abstract::Homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase ( MTHFR) gene is a risk factor for neural tube defects (NTDs) in many populations, including Italians. Another common mutation on the MTHFR gene, A1298C, has also been described as a risk mutation. Furthermore, several studies have suggeste...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200043
更新日期:2002-01-01 00:00:00
abstract::Induction rates of the dicentrics and translocations involving chromosomes 2 and 4 in peripheral lymphocytes irradiated with X-rays at a dose of 3 Gy were examined using a conventional Giemsa staining method and a chromosome painting method. In total, 228 reciprocal exchanges detected in 982 metaphases were classified...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-003-0071-x
更新日期:2003-01-01 00:00:00
abstract::Increased pulse pressure (PP) and decreased mean arterial pressure (MAP) are strong prognostic predictors of adverse cardiovascular events. Recently, the International Consortium for Blood Pressure Genome-Wide Association Studies (ICBP-GWAS) reported eight loci that influenced PP and MAP. The ICBP-GWAS examined 51 coh...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.31
更新日期:2012-06-01 00:00:00
abstract::Genomic imprinting is an epigenetic phenomenon that leads to parent-specific differential expression of a subset of genes. Most imprinted genes form clusters, or imprinting domains, and are regulated by imprinting control regions. As imprinted genes have an important role in growth and development, aberrant expression...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2013.51
更新日期:2013-07-01 00:00:00
abstract::Mucopolysaccharidosis IVA (MPS IVA) is a degenerative systemic skeletal dysplasia, in which children exhibit marked short stature and become physically handicapped. This study evaluated the growth patterns of patients treated with enzyme replacement therapy (ERT), compared with those of untreated patients. Cross-secti...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0604-6
更新日期:2019-07-01 00:00:00
abstract::Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200027
更新日期:2002-01-01 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::We determined the genomic structure of the human gene encoding 3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) reductase, which catalyzes the conversion of HMG-CoA to mevalonate and is the rate-limiting and major regulatory enzyme in sterol biosynthesis. The gene is more than 21 kb long, about five times the size of i...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380070017
更新日期:2000-01-01 00:00:00
abstract::Broad-spectrum autism, referred to as pervasive developmental disorder (PDD), may be associated with genetic factors. We examined 241 siblings in 269 Japanese families with affected children. The sibling incidence of PDD was 10.0% whereas the prevalence of PDD in the general population in the same geographic region wa...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0392-7
更新日期:2006-01-01 00:00:00
abstract::Disrupted-in-schizophrenia 1 (DISC1) was reported to be associated with schizophrenia. In a previous study, we found significant association with schizophrenia patients with deficient sustained attention assessed by continuous performance test (CPT). This study aimed to identify risk polymorphisms in this specific neu...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0597-1
更新日期:2019-07-01 00:00:00
abstract::Fucosidosis is a rare lysosomal storage disease caused by a defect of the alpha-L: -fucosidase (FUCA1) gene. Worldwide 26 mutations underlying the disease have been reported. By direct DNA sequencing of exons and flanking introns, homozygous Y126X mutation and Q281R polymorphism were found in a Taiwanese patient with ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-007-0136-3
更新日期:2007-01-01 00:00:00
abstract::The use of novel sequencing and high-throughput techniques has become widespread, and are now readily available to obtain the comprehensive transcription profile of the human genome. Noncoding RNAs (ncRNAs) are transcripts that have no apparent protein-coding capacity, but they have important roles in human physiology...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/jhg.2016.66
更新日期:2017-01-01 00:00:00
abstract::Many gene variants are involved in the susceptibility to schizophrenia and some of them are expected to be associated with other human characters. Recently reported meta-analysis of genetic associations revealed nucleotide variants in synaptic vesicular transport/Golgi apparatus genes with schizophrenia. In this study...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.72
更新日期:2010-09-01 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::Diffuse panbronchiolitis (DPB) is a distinctive chronic inflammatory lung disease predominantly found in Asian populations. Although its etiology is unknown, DPB is considered to be a multifactorial disease of whose susceptibility is determined by genetic predisposition unique to Asians. We and others have previously ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050135
更新日期:1999-01-01 00:00:00
abstract::The DExH/D-box superfamily of RNA helicases seems to play key roles during RNA metabolism, such as pre-mRNA splicing, ribosome biogenesis, and others. We have cloned a new gene of the DEAH-box protein subgroup, designated DDX40 (DEAD/H-box polypeptide 40 gene). DDX40 contains 3656 nucleotides and codes for a putative ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200104
更新日期:2002-01-01 00:00:00
abstract::Fibrodysplasia ossificans progressiva (FOP) is a rare congenital disease with autosomal dominant transmission characterized by the presence of malformations of the big toes and of postnatal progressive heterotopic endochondral osteogenesis. We report the case of 3-year-old girl with dysplasia of the first metatarsal b...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-006-0069-2
更新日期:2006-01-01 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::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::Bivariate survival models with discretely distributed frailty based on the major gene concept and applied to the data on related individuals such as twins and sibs can be used to estimate the underlying hazard, the relative risk and the frequency of the longevity allele. To determine the position of the longevity gene...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.80
更新日期:2013-10-01 00:00:00
abstract::During the past decade, the search for pathogenic mutations in rare human genetic diseases has involved huge efforts to sequence coding regions, or the entire genome, using massively parallel short-read sequencers. However, the approximate current diagnostic rate is <50% using these approaches, and there remain many r...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-019-0671-8
更新日期:2020-01-01 00:00:00
abstract::Results of twin studies have shown that autism spectrum disorders (ASDs) are attributable to complex multigenic interactions rather than to a single susceptibility gene. However, the growing number of distinct, individually rare genetic causes of ASDs, mostly copy number variations (CNVs), favors an alternative to the...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2009.105
更新日期:2009-12-01 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
doi:10.1007/s10038-006-0055-8
更新日期:2006-01-01 00:00:00