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At least 685 records · Page 38Linked to original sources
PubMed1994

Junctions between repetitive DNAs on the PSR chromosome of Nasonia vitripennis: association of palindromes with recombination.

The Paternal-Sex-Ratio (PSR) chromosome of Nasonia vitripennis contains several families of repetitive DNAs that show significant sequence divergence but share two palindromic regions. This study reports on the analysis of junctions between two of these repetitive DNA families (psr2 and psr18). Three lambda clones that hybridized to both repeat families were isolated from PSR-genomic DNA libraries through multiple screenings and analyzed by Southern blots. Analysis of clones showed a region in which the two repeat types are interspersed, flanked by uniform blocks of each repeat type. PCR amplification of genomic DNA confirmed the contiguous arrangement of psr2 and psr18 on PSR and identified an additional junction region between these repeats that was not present in the lambda inserts. We isolated and sequenced 41 clones from the lambda inserts and genomic PCR products containing junction sequences. Sequence analysis showed that all transitions between psr2 and psr18 repeats occurred near one of the two palindromes. Based on the inheritance pattern of PSR, recombination between repeats on this chromosome must be mitotic (rather than meiotic) in origin. The occurrence of exchanges near the palindromes suggests that these sequences enhance recombination between repeat units. Rapid amplification of repetitive DNA may have been an important factor in the evolution of the PSR chromosome.

Animals↗
PubMed1993

A genetic analysis of human minor histocompatibility antigens demonstrates Mendelian segregation independent of HLA.

An analysis of the genetic traits of human minor histocompatibility (mH) antigens is, unlike with inbred mice, rather complicated. Moreover, the fact that mH antigens are recognized in the context of MHC molecules creates an additional complication for reliable segregation analysis. To gain insight into the mode of inheritance of the mH antigens, we relied upon a series of HLA-A2-restricted cytotoxic T-cell (CTL) clones specific for four mH antigens. To perform segregation analysis independent of HLA-A2, we transfected HLA-A2-negative cells with the HLA-A2 gene: this results in the cell surface expression of the HLA-A2 gene product and, if present, mH antigen recognition. The mode of inheritance of the HLA-A2-restricted mH antigens HA-1, -2, -4, and -5 was analyzed in 25 families whose members either naturally expressed HLA-A2 or were experimentally rendered HLA-A2-positive. Analysis of distribution of the mH antigens in the parent population among the mating types, together with their inheritance patterns in the families, demonstrated that the four mH antigens behaved as Mendelian traits, whereby each can be considered a product of a gene with two alleles, one expressing and one not expressing the detected specificity. We also showed that the loci encoding the HA-1 and HA-2 antigens are not closely linked to HLA (lod scores Z (0 = 0.05) <-4.0). Some indication was obtained that the HA-4- and HA-5-encoding loci may be closely linked to HLA. While we are aware of the limited results of this nonetheless comprehensive study, we feel the similarity in immunogenetic traits between human and mouse mH antigens is at least striking.

Alleles↗
PubMed1991

The human transmembrane secretory component (poly-Ig receptor): molecular cloning, restriction fragment length polymorphism and chromosomal sublocalization.

The human transmembrane secretory component (SC) mediates glandular translocation of polymeric IgA and IgM into exocrine secretions. A 2898-bp cDNA clone, encoding the entire sequence of the human transmembrane SC, was isolated from a colonic adenocarcinoma cell line cDNA library. The deduced amino-acid sequence had a length of 764 residues and showed an overall similarity of 56% and 64% with the rabbit and rat counterpart, respectively. A restriction fragment length polymorphism (RFLP) was found with PvuII, revealing a two-alle RFLP with an autosomal codominant inheritance pattern and allele frequencies of 0.65 and 0.35. Southern blot analysis of human-rodent somatic hybrid panels, including hybrids with translocation chromosomes carrying different parts of chromosome 1, assigned the SC gene to 1q31-q42, thus confirming a previously reported provisional assignment.

Amino Acid Sequence↗
PubMed1993

Autosomal recessive transmission of hemophilia A due to a von Willebrand factor mutation.

The differential diagnosis of the genetic bleeding disorders, hemophilia A and von Willebrand disease, is occasionally confounded by the close molecular relationship of coagulation factor VIII and von Willebrand factor (vWF). This report describes the autosomal inheritance of a hemophilia A phenotype due to a mutation of vWF that results in defective factor VIII binding. The proband was a female patient with low levels of factor VIII activity. Polymerase chain reaction (PCR) amplification and DNA sequencing were employed to examine exons encoding the putative factor VIII binding domain of vWF. The patient was found to be homozygous for a single point mutation causing a Thr-->Met substitution at amino acid position 28 in the mature vWF subunit. The phenotypic expression of the mutation was determined to be recessive because heterozygous family members were clinically unaffected. Recombinant vWF containing the observed amino acid substitution was expressed in COS-1 cells. The mutant vWF was processed and secreted normally, and was functionally equivalent to wild-type vWF in its ability to bind to platelets. However, the mutant failed to bind factor VIII, demonstrating that the mutation was functionally related to the observed hemophilia phenotype. The family we describe demonstrates the recessive inheritance of a recently recognized class of genetic bleeding disorders, we call "autosomal hemophilia." We conclude that vWF mutation may be an under recognized cause of hemophilia, especially in cases where the inheritance pattern is not consistent with X-linked transmission.

Base Sequence↗
PubMed1995

Genetic analysis of cinnamyl alcohol dehydrogenase in loblolly pine: single gene inheritance, molecular characterization and evolution.

The gene encoding the monolignol biosynthetic enzyme cinnamyl alcohol dehydrogenase (CAD, E.C. 1.1.1.195) can be expressed in response to different developmental and environmental cues. Control of Cad gene expression could involve either differential regulation of more than one Cad gene or, alternatively combinatorial regulation of a single Cad gene. In loblolly pine (Pinus taeda L.), we found several electrophoretic variants (allozymes) of CAD and a high level of heterozygosity (he = 0.46). Analysis of inheritance patterns of pine CAD allozymes gave segregation ratios that were consistent with Mendelian expectations for a single functional gene. The identity of the full-length Cad cDNA sequence was confirmed by alignment with peptide sequences obtained from purified active enzyme and by extensive similarity to Cad sequences from other species. Southern blot analysis of genomic DNA using the Cad cDNA as a hybridization probe gave simple patterns, consistent with our interpretation that pine Cad is a single-copy gene. Phylogenetic analysis and evolution rate estimates showed that Cad sequences are diverging less rapidly in the gymnosperms than in the angiosperms. The Cad mRNA was present in both lignifying tissues and a non lignifying tissue (the megagametophyte) of pine. The presence of a single gene suggests that different regulatory mechanisms for a single Cad gene, rather than differential regulation of several genes, can account for its expression in response to different cues.

Alcohol Oxidoreductases↗
PubMed1976

Tricho-rhino-phalangeal syndrome. The first case in Japan.

The case of a 13-year-old girl with tricho-rhino-phalangeal syndrome is presented. It is characterized by sparse and slow growing hair, pear-shaped nose and cone-shaped epiphyses of hands and feet. The inheritance pattern is probably autosomal dominant transmission.

Abnormalities, Multiple↗
PubMed1994

Inheritance and expression of a transgene insert in an aneuploid tobacco line.

A T-DNA locus comprising nptII, uidA and nos genes--all under the control of the nos promoter (this locus was designated K because it encodes resistance to Kanamycin)--was found to be inherited erratically in a transgenic tobacco line. This anomalous behavior was partially explained following a karyotype analysis of plants representing several generations: these plants were aneuploids, presumably for the K-containing chromosome. During four generations of sexual propagation, transgenic plants that were either trisomic or tetrasomic for the K-containing chromosome (i.e. 2n = 49 or 2n = 50, respectively) were obtained. The trisomic plants (2n = 48 + 1) were virtually indistinguishable phenotypically from normal euploids (2n = 4x = 48), whereas the tetrasomic plants (2n = 48 + 2) were smaller, had somewhat misshapen leaves and exhibited reduced fertility. Although the amount of NPTII protein in different trisomic (K--, KK-, KKK) and tetrasomic (KK--, KKK-) plants was generally consistent with a K dosage effect, the genetic behavior of each trisomic--with respect to segregation of KanR and marker gene activity in progeny--was unique and not completely explicable by invoking aneuploidy. Specifically, unexpected gains or losses of K could occur, suggesting the formation of double reductional gametes and/or frequent gene conversion at this locus. The susceptibility of K locus marker genes to trans-inactivation in the trisomic and tetrasomic lines was tested by crossing in partially homologous silencing loci. In all transgenotypes tested, the three K marker genes were sensitive to trans-silencing, which was accompanied by methylation in all copies of the nos promotor. In addition to this directed inactivation/methylation, the K locus could also undergo infrequent, spontaneous partial methylation, which produced stable epialleles. In most plants, however, the multiple copies of the nos promoter at this locus remained unmethylated and active through four generations in all transgenotypes examined. The significance of these results for irregular inheritance patterns, aneuploid syndromes and homology-dependent gene silencing is discussed.

Aneuploidy↗
PubMed1995

Myotonic dystrophy in a large Sicilian kinship: a case report.

A large Sicilian kinship in which myotonic dystrophy (DM) affected spanning four generations is presented. The pedigree clearly illustrates the phenomenon of anticipation, and illustrates that this phenomenon is more marked when transmission occurs through an affected female rather than an affected male. The pedigree is interpreted in light of recent genetic advances in DM. Neurosurgeons and neurologists should consider a diagnosis of DM when asked to evaluate a floppy infant with enlarged lateral ventricles, and should be aware of special features regarding its inheritance pattern.

Adult↗
PubMed1993

Localization of Shaw-related K+ channel genes on mouse and human chromosomes.

Four related genes, Shaker, Shab, Shaw, and Shal, encode voltage-gated K+ channels in Drosophila. Multigene subfamilies corresponding to each of these Drosophila genes have been identified in rodents and primates; this suggests that the four genes are older than the common ancestor of present-day insects and mammals and that the expansion of each into a family occurred before the divergence of rodents and primates. In order to define these evolutionary relationships more precisely and to facilitate the search for mammalian candidate K+ channel gene mutations, we have mapped members of the Shaw-homologous gene family in humans and mice. Fluorescence in situ hybridization analysis of human metaphase chromosomes mapped KCNC2 (KShIIIA, KV3.2) and KCNC3 (KShIIID, KV3.3) to Chromosome (Chr) 19q13.3-q13.4. Inheritance patterns of DNA restriction fragment length variants in recombinant inbred strains of mice placed the homologous mouse genes on distal Chr 10 near Ms15-8 and Mdm-1. The mouse Kcnc1 (KShIIIB, NGK2-KV4, KV3.1) gene mapped to Chr7 near Tam-1. These results are consistent with the hypothesis that the generation of the mammalian KCNC gene family included both duplication events to generate family members in tandem arrays (KCNC2, KCNC3) and dispersion of family members to unlinked chromosomal sites (KCNC1). The KNCN2 and KCNC3 genes define a new synteny group between humans and mice.

Animals↗
PubMed1989

Genetic factors controlling inheritance of susceptibility to 1,2-dimethylhydrazine.

Reciprocal crosses were made between AKR/J, a 1,2-dimethylhydrazine (DMH)-resistant mouse strain, and SWR/J, a sensitive strain. The F1 hybrids were tested with DMH and methylazoxymethanol (MAM), two colon carcinogens. Either DMH (20 mg/kg body weight) or MAM (35 mg/kg body weight), a metabolic derivative of DMH, was injected weekly for 10 weeks. In each group of 35 mice, 10 were injected with tritiated thymidine (25 microCi) 1 week after the sixth injection of DMH and MAM for the evaluation of proliferative characteristics and the number of foci of dysplasia occurring in 325 microns of distal colonic mucosa. At 27 weeks after the first injection of the carcinogen, the colons of remaining mice were opened longitudinally and the number of tumors enumerated. Compared with DMH-treated mice, the number of foci of dysplasia per mouse, the percentage of tumor-bearing mice, the number of tumors per animal, and the number of tumors per tumor-bearing animal induced by MAM were severalfold higher. This would suggest the presence of a gene(s) repressing metabolism of DMH to MAM. Moreover, differences in response to the carcinogens were observed between the sexes. In contrast to males, females treated with both DMH and MAM had significantly greater numbers of tumors per animal, tumors per tumor-bearing mice, and a greater proliferative response with extension of S-phase cells to the upper third and luminal surface of crypts. Among males, those with the XAKR/YSWR heritage appeared more resistant than XSWR/YAKR males, particularly in their response to MAM. A twofold difference in the number of foci of dysplasia per mouse, tumors per animal, and the number of tumors per tumor-bearing animals was seen. Analyses of the response to DMH and MAM by F1 reciprocal hybrids of the AKR and SWR strains have shown a complex inheritance pattern governing susceptibility to DMH. Resistance to the carcinogen is provided by at least two specific repressor genes, one governing metabolism of carcinogen from DMH to MAM, and the other controlled by gender. Genetic factors contributed by the AKR female appear to convey additional resistance to male progeny, suggesting more than one gender-related gene.

1,2-Dimethylhydrazine↗
PubMed1980

Familial exudative vitreoretinopathy.

A pedigree of familial exudative vitreoretinopathy is presented; 12 out of 37 family members examined were affected and the inheritance pattern was compatible with an autosomal dominant disease. Clinical findings and fluorescein angiographic studies of patients with the early stages of the disease support the concept that familial exudative vitreoretinopathy is a disease primarily of the small peripheral vessels leading to peripheral fibro-vascular mass lesions.

Adolescent↗
PubMed1987

Fluoroacetamide resistance mutations in Chlamydomonas reinhardtii.

Acetamide, a nitrogen and carbon source for Chlamydomonas reinhardtii, is hydrolyzed by acetamidase to ammonium and acetate. It also induces urea pathway activities. Fluoroacetamide (F-acetamide) is toxic to wildtype through conversion to F-citrate, a respiratory inhibitor. Resistant mutants were selected on plates of F-acetamide plus urea. When tested on acetamide plates two mutant classes were obtained, acm+ (utilized acetamide as sole N source) and acm-. All acm+ isolates had acetamidase activity and were obligate phototrophs (i.e. "dark-diers"). Acm- isolates had either normal urea assimilation (ure+) or lacked all urea pathway activities, namely transport, urea carbooxylase and allophanate hydrolase (ure-). Inheritance patterns for both types indicated single nuclear gene mutations. The acm- ure+ type presumably resulted from a defective acetamidase gene, and the acm- ure- strains might be regulatory gene mutants. Temperature conditional F-acetamide tolerant mutants were also obtained. Acetamidase extracted from one such strain was more thermolabile than the wildtype enzyme, indicating a mutation in the coding region. The hypothesis that acetamidase is involved in urea assimilation was not supported by the genetic and biochemical evidence.

Acetamides↗
PubMed1990

Courtship behavior and control of reproductive isolation in Drosophila mojavensis: genetic analysis of population hybrids.

Drosophila mojavensis from the Sonora region and Baja California show asymmetrical sexual isolation in the laboratory: males from Sonora mate equally frequently with Sonora and Baja females, while the mating success of Baja males with Sonora females is reduced. This failure has been localized to three separate behavioral landmarks occurring during courtship. Genetic analysis was conducted using reciprocal F1 hybrids of Sonora and Baja strains to examine inheritance patterns of the responsible courtship behaviors. Mating success and propensity of F1 males were similar to Sonora males. F1 females mated with males of Sonora and Baja races equally, although mating propensity of F1 females was intermediate between that of Sonora and Baja females. Males of Baja strains presented with F1 females showed a relatively high level of failure at attempted intromission. Genes for mating behaviors are located in the autosomes, but different loci responsible for the sexual isolation appear to act in males and females.

Animals↗
PubMed1992

Is anorexia nervosa a neuropsychological disease?

Evidence for central nervous system, and more particularly cortical, etiology of anorexia nervosa is reviewed. Topics covered are neuropsychiatric comorbidity, inheritance patterns, the neurobiology of body-image disturbance and of the eating function, perinatal and alcoholic insult to the brain, neurochemical and neuroelectric disturbance, anatomic and metabolic brain imaging, and neuropsychological impairment. It is concluded that there is indeed an important neuropsychological etiological dimension to anorexia nervosa. The profile most frequently associated with anorexia nervosa is right posterior hypometabolism, followed by right anterior hypermetabolism, both associated with right-sided abnormal electroencephalogram spiking. It is also proposed that bulimia consists of a "positive" neurological subtype and that restricting anorexia represents a "negative" neurological subtype. Priorities for further research into anorexia nervosa are specified to include twin adoption studies, brain electrical topography studies, postmortem histological studies, and experimentally inspired neuropsychological studies.

Anorexia Nervosa↗
PubMed1991

[Sense organs: selective projections and control of behaviors].

Some aspects of comparative sensory physiology are reviewed in the context of the historical development. Emphasis is placed on the concepts how spatial and temporal stimulus patterns are processed into nervous excitation patterns and projected in the brain: Both receptor organs and neuron networks may act as selective filters for certain features of the stimulus situation. Neural projections represent not only the spatial distribution of the stimulus pattern but also other parameters. Excitation patterns resulting from the stimulus situation are compared in the neuronal networks with patterns inherited, learned, or inherited and modified by learning. The result of this comparison may then trigger the behavior necessary under the conditions present.

Animals↗
PubMed1994

Jackson-Weiss syndrome registered in four successive generations. The facies of Crouzon's syndrome with foot abnormalities.

A family with 15 individuals in four successive generations affected by Jackson-Weiss syndrome, craniosynostosis with Crouzon-variant-like phenotype and feet's abnormalities, is presented. An autosomal dominant inheritance pattern with complete penetrance, variable expressivity, and wide intrafamilial variation, more among, less within the same generation, was observed. Concerning the frequency and severity of complications, the evolution of craniofacial deformities seems to parallel those described with Crouzon syndrome, suggesting the similar evaluation and management.

Adult↗
PubMed1996

A model for the mechanism of precise integration of a microinjected transgene.

A unique transgenic mouse line has undergone transgene integration in a very precise fashion. The phenotype displayed by mice of the line followed the predicted inheritance patterns for X-linked transgene insertion which has been confirmed. In order to investigate the mechanism of integration the DNA sequence of the transgene and cellular junctions have been determined. A comparison between wild type and transgenic mutant sequences at the site of insertion revealed that there was no loss or rearrangement of cellular DNA upon integration of the transgene. The cellular sequences at the transgene 5' and 3' joins are contiguous in the wild type. The integrant exists as a head to tail tandem dimer with minimal loss of sequence compared with the injected monomer. Analysis of the site of insertion has revealed a 5 bp homology between the 5' end of the transgene and the cellular sequences. In addition, adjacent to the site of insertion within the cellular sequences, there are several sequence motifs implicated in recombination events including a clustering of strong consensus sites of DNA topoisomerase type I and a region of homology to the human minisatellite consensus core sequence, the Escherichia coli Chi site and the meiotic recombination hotspot within the E beta gene of the murine major histocompatibility complex. This clustering of features is likely to have been factorial in the integrity of the insertion event. A model depicting the mechanism of this precise integration is proposed.

Animals↗