Abstract:
:Several eukaryotic homologs of the Escherichia coli RecQ DNA helicase have been found. These include the human BLM gene, whose mutation results in Bloom syndrome, and the human WRN gene, whose mutation leads to Werner syndrome resembling premature aging. We cloned a Drosophila melanogaster homolog of the RECQ helicase family, Dmblm (Drosophila melanogaster Bloom), which encodes a putative 1487-amino-acid protein. Phylogenetic and dot plot analyses for the RECQ family, including 10 eukaryotic and 3 prokaryotic genes, indicate Dmblm is most closely related to the Homo sapiens BLM gene, suggesting functional similarity. Also, we found that Dmblm cDNA partially rescued the sensitivity to methyl methanesulfonate of Saccharomyces cerevisiae sgs1 mutant, demonstrating the presence of a functional similarity between Dmblm and SGS1. Our analyses identify four possible subfamilies in the RECQ family: (1) the BLM subgroup (H. sapiens Bloom, D. melanogaster Dmblm, and Caenorhabditis elegans T04A11.6); (2) the yeast RECQ subgroup (S. cerevisiae SGS1 and Schizosaccharomyces pombe rqh1/rad12); (3) the RECQL/Q1 subgroup (H. sapiens RECQL/Q1 and C. elegans K02F3.1); and (4) the WRN subgroup (H. sapiens Werner and C. elegans F18C5.2). This result may indicate that metazoans hold at least three RECQ genes, each of which may have a different function, and that multiple RECQ genes diverged with the generation of multicellular organisms. We propose that invertebrates such as nematodes and insects are useful as model systems of human genetic diseases.
journal_name
Geneticsjournal_title
Geneticsauthors
Kusano K,Berres ME,Engels WRkeywords:
subject
Has Abstractpub_date
1999-03-01 00:00:00pages
1027-39issue
3eissn
0016-6731issn
1943-2631journal_volume
151pub_type
杂志文章相关文献
GENETICS文献大全abstract::We examined the inheritance of allelic variation at an isozyme locus, MDH-B, duplicated by ancestral polyploidy in salmonid fishes. We detected only disomic segregation in females. Segregation ratios in males were best explained by a mixture of disomic and tetrasomic inheritance. We propose a two-stage model of pairin...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1997-04-01 00:00:00
abstract::Selective sweeps are typically associated with a local reduction of genetic diversity around the adaptive site. However, selective sweeps can also quickly carry neutral mutations to observable population frequencies if they arise early in a sweep and hitchhike with the adaptive allele. We show that the interplay betwe...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.138461
更新日期:2012-06-01 00:00:00
abstract::High-density genotyping of single-nucleotide polymorphisms (SNPs) enables detection of quantitative trait loci (QTL) by linkage disequilibrium (LD) mapping using LD between markers and QTL and the subsequent use of this information for marker-assisted selection (MAS). The success of LD mapping and MAS depends on the e...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.107.082206
更新日期:2007-12-01 00:00:00
abstract::Four species of the Hawaiian Drosophila planitibia subgroup which are homosequential in their polytene chromosomes are resident on the islands of Molokai, Maui and Hawaii. Comparisons of DNA sequence divergence in these four have been made by hybridization of total single-copy radiolabeled tracer DNA from each of the ...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1983-06-01 00:00:00
abstract::Stem cells have a fascinating biology and offer great prospects for therapeutic applications, stimulating intense research on what controls their properties and behavior. Although there have been significant advances in our understanding of how local microenvironments, or niches, control the maintenance and activity o...
journal_title:Genetics
pub_type: 杂志文章,评审
doi:10.1534/genetics.108.098244
更新日期:2008-12-01 00:00:00
abstract::The genetic effects of one generation of spermatogonial X-irradiation in rats, by a single dose of 600r in one experiment and by a fractionated dose of 450r in another, were measured in three generations of their descendants. Estimates of dominant lethal mutation rates--(2 to 3) X 10-4/gamete/r--from litter size diffe...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1977-02-01 00:00:00
abstract::Drosophila adult leg development provides an ideal model system for characterizing the molecular mechanisms of hormone-triggered morphogenesis. A pulse of the steroid hormone ecdysone at the onset of metamorphosis triggers the rapid transformation of a flat leg imaginal disc into an immature adult leg, largely through...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:2003-11-01 00:00:00
abstract::Trans-species polymorphism, meaning the presence of alleles in different species that are more similar to each other than they are to alleles in the same species, has been found at loci associated with vegetative incompatibility in filamentous fungi. If individuals differ at one or more of these loci (termed het for h...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:2002-06-01 00:00:00
abstract::Changes in genome structure and gene expression have been documented in both resynthesized and natural allopolyploids that contain two or more divergent genomes. The underlying mechanisms for rapid and stochastic changes in gene expression are unknown. Arabidopsis suecica is a natural allotetraploid derived from the e...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.107.086272
更新日期:2008-04-01 00:00:00
abstract::A canon of population genetics concerns the properties of FST, a descriptor of spatial genetic structure. Interest for FST arose from Wright's early insights linking FST to dispersal parameters as well as to his concept of effective population size (e.g., Wright 1938, 1951). Although there is continued interest in thi...
journal_title:Genetics
pub_type: 评论,杂志文章
doi:10.1534/genetics.113.152132
更新日期:2013-07-01 00:00:00
abstract::The level of activity of the enzyme glucose-6-phosphate dehydrogenase was determinel in flies having seven different chromosomic constitutions. All those having an integral number of chromosomes [XAA, XXAA, XAAA, XXAAA, and XXXAAA (X=Xchromosome, A=set of autosomes)] were found to have similar units of enzyme activity...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1973-06-01 00:00:00
abstract::Proper levels of gene expression are important for normal mammalian development. Typically, altered gene dosage caused by karyotypic abnormalities results in embryonic lethality or birth defects. Segmental aneuploidy can be compatible with life but often results in contiguous gene syndromes. The ability to manipulate ...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:2002-02-01 00:00:00
abstract::The interval mapping method is widely used for the mapping of quantitative trait loci (QTLs) in segregating generations derived from crosses between inbred lines. The efficiency of detecting and the accuracy of mapping multiple QTLs by using genetic markers are much increased by employing multiple QTL models instead o...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1993-09-01 00:00:00
abstract::The first five steps in de novo purine biosynthesis are involved in the formation of the 4-amino-5-hydroxymethyl-2-methyl pyrimidine (HMP) moiety of thiamine. We show here that the first enzyme in de novo purine biosynthesis, PurF, is required for thiamine synthesis during aerobic growth on some but not other carbon s...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1996-05-01 00:00:00
abstract::The distribution of the number of HLA haplotypes shared by sibs affected with the same HLA-linked disease can be used to obtain information on the genetics of the disease. Since the inception of the use of sib-pair methods for the analysis of the HLA-associated diseases, the question has been raised of how to include ...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1985-07-01 00:00:00
abstract::Scans of the human genome have identified many loci as potential targets of recent selection, but exploration of these candidates is required to verify the accuracy of genomewide scans and clarify the importance of adaptive evolution in recent human history. We present analyses of one such candidate, enamelin, whose p...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.107.077123
更新日期:2008-03-01 00:00:00
abstract::Isogenic lines, in which chromosomes sampled from natural populations of C. melanogaster are substituted into a common genetic background, were used to detect and partially characterize autosomal factors that affect the activities of the two pentose phosphate pathway enzymes, glucose 6-phosphate dehydrogenase (G6PD) a...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1981-09-01 00:00:00
abstract::The mutational origin and subsequent evolution of de novo genes, which are hypothesized to be genes of recent origin that are not obviously related to ancestral coding sequence, are poorly understood. However, accumulating evidence suggests that such genes may often function in male reproduction. Here we use testis-de...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.106.069245
更新日期:2007-06-01 00:00:00
abstract::Genetic material sequenced from ancient samples is revolutionizing our understanding of the recent evolutionary past. However, ancient DNA is often degraded, resulting in low coverage, error-prone sequencing. Several solutions exist to this problem, ranging from simple approach, such as selecting a read at random for ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.117.300448
更新日期:2018-01-01 00:00:00
abstract::In this article we investigate multiplicative effects between genes in relation to heterosis. The extensive literature on heterosis due to multiplicative effects between characters is reviewed, as is earlier work on the genetic description of heterosis. A two-locus diallelic model of arbitrary gene action is used to d...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1992-06-01 00:00:00
abstract::The breeding systems of many organisms are cryptic and difficult to investigate with observational data, yet they have profound effects on a species' ecology, evolution, and genome organization. Genomic approaches offer a novel, indirect way to investigate breeding systems, specifically by studying the transmission of...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.115.179879
更新日期:2015-11-01 00:00:00
abstract::Hormonal, genetic, and environmental factors play major roles in the complex etiology of breast cancer. When treated continuously with 17beta-estradiol (E2), the ACI rat exhibits a genetically conferred propensity to develop mammary cancer. The susceptibility of the ACI rat to E2-induced mammary cancer appears to segr...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.104.033878
更新日期:2004-12-01 00:00:00
abstract::Genes at the SerH locus of the ciliated protist Tetrahymena thermophila specify the major (H) surface protein on cells grown at 20-36 degrees. Alternative proteins L, T, S and I are expressed under different conditions of temperature and culture media. Mutants unable to express SerH genes were examined for expression ...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1992-01-01 00:00:00
abstract::A method for the estimation of population dynamic history from sequence data is described and used to investigate the past population dynamics of HIV-1 subtypes A and B. Using both gag and env gene alignments the effective population size of each subtype is estimated and found to be surprisingly small. This may be a r...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1999-02-01 00:00:00
abstract::Rare genetic variants have recently been studied for genome-wide associations with human complex diseases. Existing rare variant methods are based on the hypothesis-testing framework that predefined variant sets need to be tested separately. The power of those methods is contingent upon accurate selection of variants ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.114.167403
更新日期:2014-11-01 00:00:00
abstract::We propose a novel approximate-likelihood method to fit demographic models to human genomewide single-nucleotide polymorphism (SNP) data. We divide the genome into windows of constant genetic map width and then tabulate the number of distinct haplotypes and the frequency of the most common haplotype for each window. W...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.108.099275
更新日期:2009-05-01 00:00:00
abstract::We have isolated a new class of deletion mutants of phage lambda that extend from the prophage attachment site, att, into the gam and cIII genes. In this respect they are similar to certain of the lambda pbio transducing phage, but they differ in having a low burst size and in forming minute plaques. Lytically grown s...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1975-02-01 00:00:00
abstract::In a genetic screen for mutants showing modified splicing of an alternatively spliced GFP reporter gene in Arabidopsis thaliana, we identified mutations in genes encoding the putative U1 small nuclear ribonucleoprotein (snRNP) factors RBM25 and PRP39a. The latter has not yet been studied for its role in pre-messenger ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.117.300149
更新日期:2017-12-01 00:00:00
abstract::It has been hypothesized that the ratio of X-linked to autosomal sequence diversity is influenced by unequal sex ratios in Drosophila melanogaster populations. We conducted a genome scan of single nucleotide polymorphism (SNP) of 378 autosomal loci in a derived European population and of a subset of 53 loci in an ance...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.107.074922
更新日期:2007-09-01 00:00:00
abstract::DNA sequence analysis and genetic mapping of loci from mating-type-specific chromosomes of the smut fungus Microbotryum violaceum demonstrated that the nonrecombining mating-type-specific region in this species comprises approximately 25% ( approximately 1 Mb) of the chromosome length. Divergence between homologous ma...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.109.103192
更新日期:2009-08-01 00:00:00