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 ten populations based on 1859 haplotypes (Y-STR data) using two haplogroup predictor programs. In the Mexican population sample, we found predominantly European ancestry (50.1%), followed by Native American (32.5%), Eurasian (13.4%), African (2.1%), East African-South Eurasian (1.3%), and Asian (0.6%) ancestries. In general, our results support a contrary north-to-south gradient throughout the Mexican territory of European and Native-American ancestries, respectively. Moreover, the presence of West-European R1b and Sub-Saharan African E1b1a haplogroups agrees with historical and genetic data of gene flow during the European conquest. This study represents the effort to analyze these paternal lineages on a large scale by taking advantage of Y-STR haplotype data to determine the distribution and ancestry proportions in this country.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Aguilar-Velázquez JA,Rangel-Villalobos Hdoi
10.1038/s10038-020-00824-7subject
Has Abstractpub_date
2021-03-01 00:00:00pages
327-332issue
3eissn
1434-5161issn
1435-232Xpii
10.1038/s10038-020-00824-7journal_volume
66pub_type
杂志文章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::Modern day Iran is strategically located in the tri-continental corridor uniting Africa, Europe and Asia. Several ethnic groups belonging to distinct religions, speaking different languages and claiming divergent ancestries inhabit the region, generating a potentially diverse genetic reservoir. In addition, past pre-h...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.174
更新日期:2011-03-01 00:00:00
abstract::As a result of the combination of great linguistic and cultural diversity, the highland populations of Daghestan present an excellent opportunity to test the hypothesis of language-gene coevolution at a fine geographic scale. However, previous genetic studies generally have been restricted to uniparental markers and h...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.132
更新日期:2016-03-01 00:00:00
abstract::MLXIPL is a transcription factor integral to the regulation of glycolysis and lipogenesis in the liver. Common variants of the MLXIPL gene (MLXIPL) are known to influence plasma triglyceride levels in people of European descent. As MLXIPL has a key role in energy storage, genetic variations of the MLXIPL may be releva...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2011.109
更新日期:2011-12-01 00:00:00
abstract::alpha-1-Antichymotrypsin (ACT) is a plasma protease inhibitor belonging to the serpine superfamily; it has many functions. and thus qualitative change in ACT is likely to result in specific diseases. We previously reported a variant AACT (ACT Isehara-1, Met389Val, A1252G) in patients with ischemic cerebrovascular dise...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380170125
更新日期:2001-01-01 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::Albright's hereditary osteodystrophy (AHO) is characterized by short stature, round face, calcifications, obesity, brachydactyly and intellectual disability. AHO without hormone resistance is called pseudopseudohypoparathyroidism (PPHP), a rare clinical condition difficult to diagnose with highly variable features. PP...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2012.1
更新日期:2012-04-01 00:00:00
abstract::A sample of central Argentina (Córdoba) was genotyped for the first hypervariable region (HVS-I) plus a set of coding region mitochondrial DNA (mtDNA) single nucleotide polymorphisms (SNPs) (N = 102) and compared with a data set of Y-chromosome short tandem repeats (Y-STRs; N = 100) previously genotyped in the same in...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-008-0297-8
更新日期:2008-01-01 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::Several genetic loci (JAZF1, CDC123/CAMK1D, TSPAN8/LGR5, ADAMTS9, VEGFA and HHEX-IDE) were identified to be significantly related to the risk of type 2 diabetes and quantitative metabolic traits in European populations. Here, we aimed to evaluate the impacts of these novel loci on type 2 diabetes risk in a population-...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.117
更新日期:2010-12-01 00:00:00
abstract::Lung epithelium plays a central role in modulation of the lung inflammatory response, and lung repair and airway epithelial cells are targets in asthma and viral infection. Activated T lymphocytes release cytokines such as interferon-gamma (IFN-gamma) that induce apoptosis, or programmed cell death, of damaged epithel...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s10038-004-0161-4
更新日期:2004-01-01 00:00:00
abstract::The KCNQ2 gene codifies a subunit of the voltage-gated potassium M channel underlying the neuronal M-current. Classically, mutations in this gene have been associated with benign familial neonatal seizures, however, in recent years KCNQ2 mutations have been reported associated to early-onset epileptic encephalopathy. ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2016.104
更新日期:2017-02-01 00:00:00
abstract::We report the identification of a loss-of-function -11C>T promoter mutation in the gene encoding the sterol regulatory element binding protein cleavage-activating protein (SCAP). The -11T allele was associated with a marked reduction in promoter activity in a luciferase-based expression system. We also report addition...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380200072
更新日期:2002-01-01 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::Infantile hypertrophic pyloric stenosis (IHPS) is a multifactorial heritable condition affecting infants in the first 3 months of life. It is characterized by hypertrophy of the pylorus resulting in blockage of the pyloric canal. Patients present with projectile vomiting, weight loss and dehydration. Five susceptibili...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.10
更新日期:2013-04-01 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
doi:10.1038/jhg.2014.4
更新日期:2014-04-01 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::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::The cblC type of combined methylmalonic aciduria (MMA) and homocystinuria (HC) is the most common inborn error of vitamin B(12) metabolism and is caused by mutations in the MMACHC gene. To elucidate the spectrum of mutations that causes combined MMA and HC in Chinese patients, the MMACHC gene was sequenced in 79 unrel...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2010.81
更新日期:2010-09-01 00:00:00
abstract::Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type ...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1007/s100380050202
更新日期:2000-01-01 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::Familial recurrence of anorectal malformations (ARMs) has been reported in single institution case series and in two population-based studies. Here, we investigate the familial aggregation of ARMs using well-established, unbiased methods in a population genealogy of Utah. Study subjects included 255 ARM cases identifi...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0487-y
更新日期:2018-10-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is caused by functional loss of the survival of motor neuron 1 (SMN1) gene. Despite genetic homogeneity, phenotypic variability indicates the involvement of disease modifiers. SMN1 is located in 5q13.2 segmental duplication, enriched in genes and prone to unequal rearrangements, which res...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2015.104
更新日期:2015-11-01 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::The pattern of X-chromosome inactivation (XCI) can affect the clinical severity of X-linked disorders in females. XCI pattern analysis has been conducted mainly by HUMARA assay, a polymerase chain reaction-based assay using a methylation-sensitive restriction enzyme. However, this assay examines the XCI ratio of the a...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-018-0415-1
更新日期:2018-05-01 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::Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients fr...
journal_title:Journal of human genetics
pub_type: 杂志文章,评审
doi:10.1038/s10038-017-0386-7
更新日期:2018-03-01 00:00:00
abstract::Partner and localiser of BRCA2 forms part of a macromolecular complex with BRCA1 and BRCA2, which is critical for the repair of double-strand DNA breaks by homologous DNA recombination. Germline loss-of-function variants in the PALB2 gene may confer an increased lifetime risk of breast, pancreatic, ovarian and other c...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/s10038-019-0680-7
更新日期:2020-01-01 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
doi:10.1007/s100380050163
更新日期:1999-01-01 00:00:00
abstract::Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished b...
journal_title:Journal of human genetics
pub_type: 杂志文章
doi:10.1038/jhg.2013.103
更新日期:2013-12-01 00:00:00