Abstract:
:The identification of a second structural gene mutation at the feline arylsulfatase B locus (MPS VIb) provided the opportunity to investigate the expression of allelism by characterization of the residual enzymatic activity in feline mucopolysaccharidosis VI, an animal analogue of human Maroteaux-Lamy syndrome. Matings were designed to produce affected homozygotes who were homoallelic for the MPS VIa and MPS VIb mutations or heteroallelic genetic compounds (MPS VIa/VIb). The physicokinetic and immunological properties of the partially purified residual hepatic arylsulfatase B isozymes from the affected homoallelic and heteroallelic cats were compared to those of the normal feline enzyme. The residual hepatic arylsulfatase B activities from the inbred MPS VIa and MPS VIb homozygotes were distinguished by differences in physicokinetic and immunological properties. The newly identified mutant isozyme b had abnormal kinetic properties toward artificial and natural substrates, normal cryo- and thermostabilities, a normal molecular weight and an altered electrophoretic mobility. Polyacrylamide gel electrophoresis demonstrated that the mutant b subunits formed dimers with normal subunits in obligate heterozygotes (MPS VI+/b). In contrast, mutant isozyme a subunits from obligate MPS VIa/+ heterozygotes did not dimerize with the normal subunit, and the mutant and normal isozymes could be separated by anion exchange chromatography and polyacrylamide gel electrophoresis. Characterization of the partially purified residual hepatic arylsulfatase B activity from the heteroallelic homozygotes revealed the presence of both mutant isozymes a and b. The demonstration of two allelic mutations in the feline arylsulfatase B gene documented the occurrence of genetic heterogeneity in feline mucopolysaccharidosis VI and permitted characterization of the enzymatic defect in homoallelic and heteroallelic (genetic compound) homozygotes, providing a model for the study of allelism in human genetic disorders.
journal_name
Geneticsjournal_title
Geneticsauthors
McGovern MM,Mandell N,Haskins M,Desnick RJsubject
Has Abstractpub_date
1985-08-01 00:00:00pages
733-49issue
4eissn
0016-6731issn
1943-2631journal_volume
110pub_type
杂志文章相关文献
GENETICS文献大全abstract::The nuclear envelope in Saccharomyces cerevisiae harbors two essential macromolecular protein assemblies: the nuclear pore complexes (NPCs) that enable nucleocytoplasmic transport, and the spindle pole bodies (SPBs) that mediate chromosome segregation. Previously, based on metazoan and budding yeast studies, we report...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.112.141465
更新日期:2012-10-01 00:00:00
abstract::A flight test box was developed and used in the isolation and initial characterization of Drosophila melanogaster mutants defective in flight behavior. Forty-eight mutants were isolated from F(1) progeny of ethyl methanesulfonate-treated males. Genetic mapping and complementation tests show that the mutations reside a...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1977-09-01 00:00:00
abstract::In Drosophila melanogaster, heterochromatin-induced silencing or position-effect variegation (PEV) of a reporter gene has provided insights into the properties of heterochromatin. Class I modifiers suppress PEV, and class II modifiers enhance PEV when the modifier gene is present in fewer than two doses. We have exami...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1998-02-01 00:00:00
abstract::The B-Peru allele of the maize b regulatory gene is unusual relative to most b alleles in that it is expressed in the aleurone layer of the seed. It is also expressed in a subset of plant vegetative tissues. Transgenic maize plants containing the B-Peru gene with the first 710 bases of upstream sequence conferred the ...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1998-06-01 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::A newly identified gene is described that is required for the maintenance of normal identities in many of the body segments of the fly. The effects of mutants in this gene, which is called Polycomblike (Pcl), suggest that its wild-type allele functions in the regulation of the bithorax gene complex (BX-C) and the Ante...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1982-09-01 00:00:00
abstract::The relationship between multidimensional form of the adult mouse mandible and body size is examined from an ontogenetic perspective. The origin and ontogeny of phenotypic correlations are described in terms of genetic and environmental covariance patterns between adult skeletal morphology and growth in body weight. D...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1985-11-01 00:00:00
abstract::We analyzed linkage and chromosomal positions of genes in A. lyrata ssp. petraea that are located near the centromere (CEN) regions of A. thaliana, using at least two genes from the short and long arms of each chromosome. In our map, genes from all 10 A. thaliana chromosome arms are also tightly linked in A. lyrata. G...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.106.057182
更新日期:2006-07-01 00:00:00
abstract::The African fish Nothobranchius furzeri is the shortest-lived vertebrate species that can reproduce in captivity, with a median life span of 9-11 weeks for the shortest-lived strain. Natural populations of N. furzeri display differences in life span, aging biomarkers, behavior, and color, which make N. furzeri a uniqu...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.109.108670
更新日期:2009-12-01 00:00:00
abstract::The Drosophila melanogaster Gld gene has multiple and diverse developmental and physiological functions. We report herein that interactions among proximal promoter elements and a cluster of intronically located enhancers and silencers specify the complex regulation of Gld that underlies its diverse functions. Gld expr...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:2001-02-01 00:00:00
abstract::A spontaneous lethal mutation rate approximately twenty to thirty times greater than normal has been discovered in second and third chromosomes derived from an irradiated isogenic line and paired with marked inversion chromosomes. Mutations resulting in reductions of viability of varying magnitude short of complete le...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1973-09-01 00:00:00
abstract::According to the ratchet mechanism hypothesis, deleterious mutations should accumulate in clonal genomes of unisexual fish of the genus Poeciliopsis. This study defines one such mutant, a silent carboxylesterase allele (ES-5 degrees) which is found in the heterozygous condition in a particular population of P. monacha...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1982-02-01 00:00:00
abstract::Specific mutations in the gene encoding the largest subunit of RNA polymerase II (RpII215) cause a partial transformation of a structure of the third thoracic segment, the capitellum, into the analogous structure of the second thoracic segment, the wing. This mutant phenotype is also caused by genetically reducing the...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1992-08-01 00:00:00
abstract::Signaling by receptor tyrosine kinases (RTKs) is critical for a multitude of developmental decisions and processes. Among the molecules known to transduce the RTK-generated signal is the nonreceptor protein tyrosine phosphatase Corkscrew (Csw). Previously, Csw has been demonstrated to function throughout the Drosophil...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:2000-10-01 00:00:00
abstract::Flowering is indicative of the transition from vegetative to reproductive phase, a critical event in the life cycle of plants. In soybean (Glycine max), a flowering quantitative trait locus, FT2, corresponding to the maturity locus E2, was detected in recombinant inbred lines (RILs) derived from the varieties "Misuzud...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.110.125062
更新日期:2011-06-01 00:00:00
abstract::A unique aspect of meiosis is the segregation of homologous chromosomes at the meiosis I division. The pairing of homologous chromosomes is a critical aspect of meiotic prophase I that aids proper disjunction at anaphase I. We have used a site-specific recombination assay in Saccharomyces cerevisiae to examine allelic...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.105.050658
更新日期:2006-07-01 00:00:00
abstract::Yeast cells subjected to a reversible thermal arrest of meiosis yielded progressively fewer spores per ascus as the arrest was extended. Dissection of two-spored asci by a newly developed method that prevents selection of false asci revealed that the spores were not a random sample of the haploid meiotic products. Mos...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1980-03-01 00:00:00
abstract::The trace element iron is crucial for living organisms, since it plays essential roles in numerous cellular functions. Systemic iron overload and the elevated level of ferritin, a ubiquitous intracellular protein that stores and releases iron to maintain the iron homeostasis in cells, has long been epidemiologically a...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.116.186742
更新日期:2016-05-01 00:00:00
abstract::Race-cultivar specialization during the interaction of the basidiomycete smut pathogen Ustilago hordei with its barley host was described in the 1940s. Subsequent genetic analyses revealed the presence of dominant avirulence genes in the pathogen that conform to the gene-for-gene theory. This pathosystem therefore pre...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.166.1.99
更新日期:2004-01-01 00:00:00
abstract::This paper describes a perturbation experiment on the frequency of the F and S Alcohol dehydrogenase (Adh) alleles of D. melanogaster. Fifty-four iso-female lines set up from three wild populations and with initial F frequencies of either 0.25, 0.50 or 0.75 were maintained on standard laboratory food medium at 22 degr...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1982-01-01 00:00:00
abstract::Dna2 is a nuclease and helicase that functions redundantly with other proteins in Okazaki fragment processing, double-strand break resection, and checkpoint kinase activation. Dna2 is an essential enzyme, required for yeast and mammalian cell viability. Here, we report that numerous mutations affecting the DNA damage ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.118.300809
更新日期:2018-05-01 00:00:00
abstract::Dealing with physiological stress is a necessity for all organisms, and the pathways charged with this task are highly conserved in Metazoa . Accumulating evidence highlights cell-nonautonomous activation as an important mode of integrating stress responses at the organism level. Work in Caenorhabditis elegans highlig...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.118.301446
更新日期:2018-12-01 00:00:00
abstract::All living organisms require nutrient minerals for growth and have developed mechanisms to acquire, utilize, and store nutrient minerals effectively. In the aqueous cellular environment, these elements exist as charged ions that, together with protons and hydroxide ions, facilitate biochemical reactions and establish ...
journal_title:Genetics
pub_type: 杂志文章,评审
doi:10.1534/genetics.112.147207
更新日期:2013-03-01 00:00:00
abstract::We consider the effect on the distribution of pairwise differences between mitochondrial DNA sequences of the incorporation into the underlying population genetics model of two particular effects that seem realistic for human populations. The first is that the population size was roughly constant before growing to its...
journal_title:Genetics
pub_type: 杂志文章
doi:
更新日期:1994-02-01 00:00:00
abstract::I have studied nucleotide polymorphism and linkage disequilibrium using multilocus data from 77 fragments, with an average length of fragments of 550 bp, in the deciduous tree Populus tremula (Salicaceae). The frequency spectrum across loci showed a modest excess of mutations segregating at low frequency and a marked ...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.108.090431
更新日期:2008-09-01 00:00:00
abstract::Neutrality tests based on the frequency spectrum (e.g., Tajima's D or Fu and Li's F) are commonly used by population geneticists as routine tests to assess the goodness-of-fit of the standard neutral model on their data sets. Here, I show that these neutrality tests are specific instances of a general model that encom...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.109.104042
更新日期:2009-09-01 00:00:00
abstract::C. elegans spermatogenesis employs lysosome-related fibrous body-membranous organelles (FB-MOs) for transport of many cellular components. Previous work showed that spe-10 mutants contain FB-MOs that prematurely disassemble, resulting in defective transport of FB components into developing spermatids. Consequently, sp...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.105.047340
更新日期:2006-01-01 00:00:00
abstract::Yeast mitochondria form a branched tubular network. Mitochondrial inheritance is tightly coupled with bud emergence, ensuring that daughter cells receive mitochondria from mother cells during division. Proteins reported to influence mitochondrial inheritance include the mitochondrial rho (Miro) GTPase Gem1p, Mmr1p, an...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.107.083055
更新日期:2008-02-01 00:00:00
abstract::Parentage analysis is an important method that is used widely in zoological and ecological studies. Current mathematical models of parentage analyses usually assume that a population has a uniform genetic structure and that mating is panmictic. In a natural population, the geographic or social structure of a populatio...
journal_title:Genetics
pub_type: 杂志文章
doi:10.1534/genetics.118.301592
更新日期:2018-12-01 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