Abstract:
:High throughput sequencing methods have completely transformed the study of human Y chromosome variation by offering a genome-scale view on genetic variation retrieved from ancient human remains in context of a growing number of high coverage whole Y chromosome sequence data from living populations from across the world. The ancient Y chromosome sequences are providing us the first exciting glimpses into the past variation of male-specific compartment of the genome and the opportunity to evaluate models based on previously made inferences from patterns of genetic variation in living populations. Analyses of the ancient Y chromosome sequences are challenging not only because of issues generally related to ancient DNA work, such as DNA damage-induced mutations and low content of endogenous DNA in most human remains, but also because of specific properties of the Y chromosome, such as its highly repetitive nature and high homology with the X chromosome. Shotgun sequencing of uniquely mapping regions of the Y chromosomes to sufficiently high coverage is still challenging and costly in poorly preserved samples. To increase the coverage of specific target SNPs capture-based methods have been developed and used in recent years to generate Y chromosome sequence data from hundreds of prehistoric skeletal remains. Besides the prospects of testing directly as how much genetic change in a given time period has accompanied changes in material culture the sequencing of ancient Y chromosomes allows us also to better understand the rate at which mutations accumulate and get fixed over time. This review considers genome-scale evidence on ancient Y chromosome diversity that has recently started to accumulate in geographic areas favourable to DNA preservation. More specifically the review focuses on examples of regional continuity and change of the Y chromosome haplogroups in North Eurasia and in the New World.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Kivisild Tdoi
10.1007/s00439-017-1773-zsubject
Has Abstractpub_date
2017-05-01 00:00:00pages
529-546issue
5eissn
0340-6717issn
1432-1203pii
10.1007/s00439-017-1773-zjournal_volume
136pub_type
杂志文章,评审相关文献
HUMAN GENETICS文献大全abstract::Thirty one families with Alport syndrome including 3 families with associated syndromes were studied. The location of the COL4A5 gene, responsible for the Alport syndrome, was determined by linkage analysis with eight probes of the Xq arm and by a radiation hybrid panel. Concordant data indicated the localization of t...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00220471
更新日期:1992-12-01 00:00:00
abstract::Esterase D levels from 200 retinoblastoma patients have been measured in an attempt to identify individuals carrying deletions of chromosome region 13q14. In this series 75% had bilateral tumours and 23% were familial. Of nine patients identified as having low esterase D levels, five had not previously been diagnosed ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00283938
更新日期:1986-02-01 00:00:00
abstract::Angelman syndrome (AS) is a rare neurodevelopmental disorder. Recently, several mutations have been found in the E6-AP ubiquitin protein ligase gene (UBE3A) in a group of patients who are nondeleted and do not have uniparental disomy or imprinting defects. Most of the reported mutations cluster within exons 9 or 16 of...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050727
更新日期:1998-04-01 00:00:00
abstract::DNA haplotypes and frameworks (numbers in parenthesis) linked to the beta-globin gene were determined by restriction fragment analysis using eight restriction endonucleases on 86 (97) chromosomes bearing the normal beta-globin gene (HBB*A) and 108 (118) chromosomes bearing HBB*E in subjects homozygous for HBB*A or HBB...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00451464
更新日期:1988-09-01 00:00:00
abstract::The majority of constitutional reciprocal translocations appear to be unique rearrangements arising from independent events. However, a small number of translocations are recurrent, most significantly the t(11;22)(q23;q11). Among large series of translocations there may be multiple independently ascertained cases with...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-008-0611-8
更新日期:2009-03-01 00:00:00
abstract::Tay-Sachs disease (TSD) is an inherited neurodegenerative ganglioside storage disorder caused by deficiency of the hexosaminidase A enzyme. A deletion allele (FCD) at the HEXA locus has attained high frequency in the French Canadian population. The distribution of affected probands shows a likely center of diffusion f...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00207048
更新日期:1992-04-01 00:00:00
abstract::Human height is a complex trait regulated by multiple genetic and environmental factors. CYP19 (cytochrome P450 19) encodes aromatase, which catalyses the rate-limiting step in the conversion of androgens to estrogens. Deleterious mutations in CYP19 can result in estrogen deficiency that will influence adult height to...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-006-0199-9
更新日期:2006-08-01 00:00:00
abstract::A cDNA probe of the human COL5A1 gene detects a frequent biallelic PstI polymorphism. Allele A has a frequency of 54% whereas that of allele B is 46%. This restriction fragment length polymorphism provides a useful marker for linkage analysis in 9q34.3. ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00223882
更新日期:1995-05-01 00:00:00
abstract::We have used the polymerase chain reaction to amplify two variable number of tandem repeats (VNTRs) within a region of repetitive DNA located in intron 40 of the von Willebrand factor (vWf) gene. Heterozygosity for VNTR I was observed in 30 out of 39 normal unrelated individuals tested (77%), and for VNTR II in 29 out...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00217122
更新日期:1992-05-01 00:00:00
abstract::Defective function of the Sonic Hedgehog (SHH) signaling pathway is the most frequent alteration underlying holoprosencephaly (HPE) or its various clinical microforms. We performed an extensive mutational analysis of the entire human DISP1 gene, required for secretion of all hedgehog ligand(s) and which maps to the HP...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-009-0628-7
更新日期:2009-05-01 00:00:00
abstract::Complex diseases are far more common than diseases that follow simple Mendelian patterns of inheritance. Difficulties are experienced in the designing of experiments to dissect out the contribution of a single allele to a complex phenotype. We review the literature regarding a point mutation in methylenetetrahydrofola...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/s004390050776
更新日期:1998-07-01 00:00:00
abstract::Silver-Russell syndrome (SRS) is a clinically heterogeneous disorder characterised by severe in utero growth restriction and poor postnatal growth, body asymmetry, irregular craniofacial features and several additional minor malformations. The aetiology of SRS is complex and current evidence strongly implicates imprin...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1526-1
更新日期:2015-03-01 00:00:00
abstract::The largest class of de novo chromosomal rearrangements in Down syndrome are rea(21q21q). Classically, these rearrangements have been termed Robertsonian translocations, implying an attachment of two different chromosome 21 homologues. Additionally, a Robertsonian translocation between two chromosomes 21 cannot be dis...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00201838
更新日期:1991-02-01 00:00:00
abstract::Sarcoidosis is known to be a systemic granulomatous disorder characterized by a cell-mediated Th1-type inflammatory response. To identify a key genetic factor in the pathogenesis of sarcoidosis, we investigated single nucleotide polymorphisms within 10 candidate genes involved in type 1 immune process ( IFNA17, IFNB, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-004-1099-5
更新日期:2004-04-01 00:00:00
abstract::The consanguinity of parents (born in France) of individuals who have a recessive disease has been studied. The frequency of first cousin marriages is less than 0.2% in the general French population. Among the parents of affected individuals the following frequencies of first cousin matings were observed: cystic fibro...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00527398
更新日期:1977-09-22 00:00:00
abstract::Turner syndrome is a sex chromosome aneuploidy with characteristic malformations. Amniotic fluid, a complex biological material, could contribute to the understanding of Turner syndrome pathogenesis. In this pilot study, global gene expression analysis of cell-free RNA in amniotic fluid supernatant was utilized to ide...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-014-1448-y
更新日期:2014-09-01 00:00:00
abstract::A population study of Gd- allele distribution was made in similar (age-sex) samples of schoolchildren and students from different ethnic groups: Russians, Ashkenazi Jews, and Azerbaijanians. Both the frequency and the spectrum of the Gd- alleles were quite different. The Gd- frequency in Russians (Kostroma region) was...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00281070
更新日期:1987-03-01 00:00:00
abstract::The karyotype of leukemic cells was studied in 88 acute nonlymphocytic leukemia (ANLL) patients. Chromosome abnormalities were discovered in 78.4% of all patients and in 72.5% of the 69 patients studied before treatment. Characteristic abnormalities: translocations 8;21, 15;17, 9;22 or 6;9, rearrangements of 11q, gain...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00291604
更新日期:1986-06-01 00:00:00
abstract::Albumin is a developmentally regulated serum protein synthesized in the liver mainly during adulthood. Family studies using variant forms of albumin established autosomal linkage between albumin and group-specific component protein (GS). Since GC has been assigned to human chromosome 4, albumin can be indirectly assig...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00304551
更新日期:1982-01-01 00:00:00
abstract::A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a balanced heterozygote...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00447289
更新日期:1976-07-07 00:00:00
abstract::Out of a population of 138,598 infants born in southern Poland between 1987 and 1989, and screened for phenylketonuria (PKU), 28 cases were ascertained probands and their parents were isolated and eight polymorphic restriction sites were analyzed within the phenylalanine hydroxylase gene region. Twenty-one different h...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00202412
更新日期:1991-01-01 00:00:00
abstract::Dysregulation of the one-carbon metabolic pathway, which controls nucleotide synthesis and DNA methylation, may promote lymphomagenesis. We evaluated the association between polymorphisms in one-carbon metabolism genes and risk of non-Hodgkin lymphoma (NHL) in a population-based case-control study in Australia. Cases ...
journal_title:Human genetics
pub_type: 杂志文章,meta分析
doi:10.1007/s00439-007-0431-2
更新日期:2007-12-01 00:00:00
abstract::The severe neonatal centronuclear/myotubular myopathy (XLMTM) is an X-linked disorder characterized by generalized muscle weakness, hypotonia and serious respiratory insufficiency. The gene for this disease has been assigned to the long arm of chromosome X in the Xq28 band. Ca2+ ATPase isoform-3 (ATP2B3) has also been...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s004390050284
更新日期:1996-12-01 00:00:00
abstract::In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lym...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00284489
更新日期:1987-11-01 00:00:00
abstract::We have studied the allele frequency distribution of the microsatellite locus DYS19 in several populations with different geographical origins worldwide. Three new alleles were found. In addition, remarkable geographic and ethnic differences were observed in the allele frequency profiles and DNA marker (gene) diversit...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF02185760
更新日期:1996-03-01 00:00:00
abstract::Fetal DNA in maternal plasma and serum has been shown to be a useful material for fetal gender determination and for screening tests for abnormal pregnancies except during early gestational ages. Maternal serum samples were obtained from 81 pregnant women during the 5th-10th weeks of gestation. Fetal gender was determ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-001-0649-3
更新日期:2002-01-01 00:00:00
abstract::Eukaryotic genomes contain 5-methylcytosine (5mC) as a rare base.5mC arises by postsynthetic modification of cytosine and occurs, at least in animals, predominantly in the dinucleotide CpG. The base is not distributed randomly in these genomes but conforms to a pattern. This pattern varies between taxa but appears to ...
journal_title:Human genetics
pub_type: 杂志文章,评审
doi:10.1007/BF00292363
更新日期:1983-01-01 00:00:00
abstract::Two siblings with the "happy puppet" syndrome are presented. Their clinical features are quite similar and closely resemble those of previously reported cases. These features include severe mental retardation, epileptic seizures, easily provoked and prolonged paroxysms of laughter, atactic jerky movements, hypotonia, ...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00295701
更新日期:1980-01-01 00:00:00
abstract::Two previous single case reports from the literature showed the presence or absence of centromeric antigens at the site of the inactive centromeres in one (X;X) and in one (9;11) dicentric chromosome. We studied nine different dicentric chromosomes using anticentromeric antibodies and immunofluorescence techniques. In...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/BF00292655
更新日期:1986-05-01 00:00:00
abstract::It has recently been suggested that short expansions of CAG repeat in the gene ATXN-2 causing SCA2 (spinocerebellar ataxia type 2) are associated with an increased risk of amyotrophic lateral sclerosis (ALS) in the populations of the USA and northern Europe. In this study, we investigated the role of ATXN-2 in Italian...
journal_title:Human genetics
pub_type: 杂志文章
doi:10.1007/s00439-011-1000-2
更新日期:2011-10-01 00:00:00