bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dyschromatosis symmetrica hereditaria associated with neurological disorders
Authors: KONDO Taisuke , SUZUKI Tamio , ITO Shiro , KONO Michihiro , NEGORO Tamiko , TOMITA Yasushi 
Published: July 2010

ABSTRACTDyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). It is characterized by a mixture of hyper‐ and hypopigmented macules on the back of the hands and feet. The pathomechanism by which the ADAR1 gene mutation induces DSH has not been clarified yet. We experienced an 11‐year‐old male DSH patient associated with dystonia, mental deterioration and brain calcification, who had a mutation of p.G1007R in the ADAR1 gene. This mutation had already been reported in a patient with similar neurological symptoms by Tojo et al. Additionally, a patient with DSH associated with torsion dystonia was reported by Patrizi et al., but gene analysis was not carried out. Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms. Therefore, we suggest that neurological disorders rarely develop in DSH.
The sex‐determining region Y (SRY) gene is mapped to p12‐p13 of the Y chromosome in pig (Sus scrofa domestica) by in situ hybridization
Authors: Yang H. , Fries R. , Stranzinger G. 
Published: July 2010

SummaryThe sex‐determining region Y is a gene located in the distal portion of the short arm of human (SRY) and mouse (Sry) Y chromosomes and considered to be the best candidate for the testis determining factor (TDF/Tdy). The gene is believed to be the key factor in sex differentiation in mammals and is conserved across mammalian species. We report herein that the SRY/Sry gene has been assigned to pi 2‐p13 on the short arm of the Y chromosome in pig by in situ hybridization. The result confirms interspecies conservation of this chromosomal segment in the evolution of mammalian chromosomes, and suggests further use of this gene probe in genomic studies in other mammals. The assignment of the Sry gene is the second physical gene mapping data available for the Y chromosome in pigs. Such data can be used in the effort of constructing the pig gene map and for further establishment of a comparison of sex chromosome morphology in different mammalian species concerning sex‐specific and pseudoautosomal regions.
Polymerase chain reaction analysis of mitochondrial DNA polymorphism in N'Dama and Zebu cattle
Authors: Suzuki R. , Kemp S. J. , Teale A. J. 
Published: July 2010

SummaryA study of polymorphisms of mitochondrial DNA (mtDNA) of West African N'Dama (Bos taurus) and East African Zebu (B. indicus) cattle was carried out to obtain information on maternal phylogenetic relationships between these breeds. A relatively large sample size was made possible by using polymerase chain reaction (PCR) amplification of DNA prepared from small blood samples to generate fragments of two known polymorphic mtDNA regions, one within the gene encoding subunit 5 of NADH dehydrogenase and one encompassing the entire D‐loop. This approach allowed us to achieve a higher resolution restriction analysis on mtDNA from more animals than would have been possible by conventional methods. PCR‐amplified mtDNA of 58 animals from five populations was examined at 26 restriction sites by 16 enzymes. In this way 154 nucleotides of mtDNA were scanned for polymorphism. Six polymorphic sites were located by this means, five of which were within the D‐loop and one of which was within the NADH dehydrogenase 5 gene. None of the polymorphisms observed could be con sidered typical of breed or type.
Mapping of MYF5, GlR, MYHL, TPIl, IAPP, A2MR and RNR onto sheep chromosome 3q
Authors: Broad T. E. , Lewis P. E. , Ansari H. A. , Pearce P. D. , Burkin D. J. , Jones C. 
Published: July 2010

SummaryFive new loci, myogenic factor 5 (MYF5), complement 1 receptor (CIR), myosin‐like heavy chain (MYHL), islet amyloid polypeptide (IAPP), and alpha‐2‐macroglobulin receptor (A2MR), were mapped onto sheep chromosome 3q by Southern hybridization to a panel of chro‐mosomally characterized sheep × hamster cell hybrid lines. The location of the triose phosphate isomerase (TPI1) gene and one of the nucleolar organizer regions (RNR) on sheep 3q was confirmed by Southern analysis. This study provides further evidence for the existence of a large conserved chromosomal segment comprising much of sheep chromosome 3q, cattle chromosome 5, and human chromosome 12. The distal evolutionary breakpoint on human chromosome 12, producing the chromosomal segment U23 in cattle marked by aldehyde dehydrogenase (ALDH2), also produces a separate segment in sheep. Neither ALDH2 nor pancreatic lipase (PLA2), which is also distally located on human chromosome 12, were mapped onto sheep chromosome 3q.
A new αS1‐casein allele in bovine milk and its occurrence in different breeds
Authors: Erhardt G 
Published: July 2010

SummaryA new asi‐casein variant (αS1‐CN F) with a frequency of 0.009 was demonstrated in a genetic resource of German Black and White Cattle by isoelectric focusing in polyacrylamide gels and by polyacrylamide gel electrophoresis under alkaline conditions. αs1‐CN F was not present either in German Holstein Friesians, which originate from crossing Holstein Friesians with German Black and White Cattle, or in milk samples from eight other breeds in Germany.
Parentage testing and linkage analysis in the horse using a set of highly polymorphic microsatellites
Authors: Marklund S , Ellegren H , Eriksson S , Sandberg K , Andersson L , Marklund S , Ellegren H , Eriksson S , Sandberg K , Andersson L 
Published: July 2010

SummaryTen (TG)n positive clones, isolated from an equine genomic library and sequenced, contained 12–19 uninterrupted TG repeats. Primers for polymerase chain reaction (PCR) were synthesized and nine of these (TG)n loci (HTG7‐15) were successfully amplified and utilized in this study together with five previously reported equine microsatellite loci (HTG2‐6). The PCR products were analysed by polyacrylamide gel electrophoresis followed by automated laser fluorescence detection or autoradiography. All microsatellites showed polymorphism and stable Mendelian inheritance. Differences in microsatellite variability between horse breeds were detected. A linkage analysis comprising HTG2‐15, one coat colour gene and 16 genetic blood markers enabled addition of HTG2 to linkage group U2 and a new linkage group (U6) was established comprising the loci HTG7 and HTG12. Close linkage was excluded within a set of eight microsatellites. The estimated probability of exclusion in four breeds for a parentage test based on these eight loci varied between 0.96 and 0.99.
Biochemical and genetic analysis of variant C of caprine αs2‐casein (Capra hircus)
Authors: Bouniol C , Brignon G , Mahé M F , Printz C 
Published: July 2010

SummaryTwo alleles, A and B, were previously described at the goat αs2‐casein locus. Isoelectric focusing allowed us to subdivide the former one in two new alleles, called A and C. Although αs2‐casein C cannot actually be distinguished from its A counterpart by starch or polyacrylamide gel electrophoresis, it differs from the previous allele by a single substitution Lys (A)/Ile (C) at position 167, which was confirmed at the nucleotide level. The frequencies of the three αs2‐casein alleles A, B and C were estimated to be 0.85, 0.04 and 0.11 in the French dairy breeds ‘Alpine’ and ‘Saanen’.
Molecular heterogeneity for bovine maple syrup urine disease
Authors: Healy P. J. , Dennis J. A. 
Published: July 2010

SummaryIn Poll Herefords, it is known that maple syrup urine disease results from a nonsense mutation in codon ‐6 of the gene for the Elα subunit of branched‐chain α‐keto acid dehydrogenase. The disease also occurs in Poll Shorthorns, but its molecular basis in this breed has not yet been determined. Allele‐specific hybridization and allele‐specific amplification, both based on the Poll Hereford mutation, failed to detect the mutant allele in Poll Shorthorn heterozygotes, and detected the normal allele in affected Poll Hereford‐cross‐Poll Shorthorn calves. These results demonstrate between breed molecular heterogeneity for bovine maple syrup urine disease.
Casein haplotypes and their association with milk production traits in the Finnish Ayrshire cattle
Authors: Velmala R , Vilkki J , Elo K , Mäki‐Tanila A 
Published: July 2010

SummaryPolymorphism of casein genes was studied in half‐sib families of artificial insemination bulls of the Finnish Ayrshire dairy breed. Ten grandsires and 300 of their sons were genotyped for the following polymorphisms: αS1‐casein (B, C), β‐casein (A1, A2), the microsatellite within the K‐casein gene (ms5, ms4) and K‐casein (A, B, E). Nine different combinations of these alleles, casein haplotypes, were found. Associations between casein haplotypes and milk production traits (milk and protein yield, fat and protein percentage and milking speed) were studied with ordinary least‐squares analysis to find a direct effect of the haplotypes or an association within individual grandsire families using the granddaughter design. Estimated breeding values of sons were obtained from cow evaluation by animal model. No direct effect of the casein haplotypes on the traits was found. Within grandsire families, in one out of four families the chromosomal segment characterized by haplotype 3 (B‐A2‐ms4‐A) was associated with an increase in milk yield (P<0.01) and a decrease in fat percentage (P< 0.01) when contrasted with haplotype 8 (B‐A1‐ms4‐E). The results provide evidence that in the Finnish Ayrshire breed at least one quantitative trait locus affecting the genetic variation in yields traits is segregating linked to either haplotype 3 (B‐A2‐ms4‐A) or 8 (B‐A1‐ms4‐E).
A swine SINE (PRE‐1 sequence) distribution in swine‐related animal species and its phylogenetic analysis in swine genome
Authors: Yasue H. , Wada Y. 
Published: July 2010

SummaryThe distribution of PRE‐1 sequence (a swine SINE) among the animal species related to Sus scrofa, i.e. Phacochoerus aethiopicus and Tayassu tajacu, was examined by dot‐blot analysis using PRE‐1 sequences as a probe. This revealed that Phacochoerus aethiopicus and Tayassu tajacu contained PRE‐1 sequences, amounts of which in their genomes are almost the same as that in the swine genome, indicating that these species separated after PRE‐1 sequences proliferated to diversify in the genome. In order to estimate the time when the PRE‐1 started to diversify in the swine genome, PRE‐1 sequences were extracted from GenBank DNA database by homology analysis using the PRE‐1 consensus sequence as a probe. The 22 PRE‐1 sequences obtained were aligned and their phylogenetic relation was calculated by the neighbour‐joining method. The result of the calculation combined with the mutation rate of the pseudogenes (r = 4.6 times 10‐9 indicated that the PRE‐1 sequence diversified at least 43.2 million years ago. Taken together, the period of time since the separation of the three species, Sus scrofa, Phacochoerus aethiopicus and Tayassu tajacu, is currently estimated to be less than 43.2 million years.
Detection of a new k‐casein variant in milk of Pinzgauer cattle
Authors: Erhardt G. 
Published: July 2010

SummaryA new k casein variant (k‐CN G) with a frequency of 0.003 was demonstrated in Pinzgauer cattle from Austria and Bavaria, Germany by iso‐electric focusing in polyacrylamide gels and by alkaline polyacrylamide gel electrophoresis. k‐CN G was not present in milk samples of Limpurger, another endangered breed.
Gene frequencies of DRB3.2 locus of Argentine Creole cattle
Authors: Giovambattista G. , Golijow C. D. , Dulout F. N. , Lojo M. M. 
Published: July 2010

SummaryGene and genotype frequencies of BoLA‐DRB3 were studied in seven herds of Argentine Creole cattle. Twenty‐one out of thirty previously identified alleles were detected in this breed. The F statistics showed high degree of variability among the studied subpopulations suggesting that subdivision and genetic drift, rather than inbreeding, have been the major factors acting on the observed interpopulation variability. The observed high degree of genetic variation in Argentine Creole cattle could be crucial for the long‐term survival of this population. Maintenance of such polymorphism, as a genetic resource, could be an important issue that will demand attention in future breeding programmes in species under high selective pressures.
Assignment of immune‐related genes to the channel catfish, Ictalurus punctatus, genetic map
Authors: Karsi A. , Wolters W. R. , Waldbieser G. C. 
Published: July 2010

SummaryEighteen new genes, adenosine A1 receptor (ADORA1), complement component 4‐beta (C4b), complement component 8‐beta (C8b), chemokine ligand 19 (CCL19), chemokine ligand 21 (CCL21), chemokine ligand 25 (CCL25), chemokine receptor 2 (CCR2), chemokine receptor 5 (CCR5), chemokine receptor 4 (CCR4), chemokine receptor 7 (CCR7), chemokine receptor 9 (CCR9), interleukin 1‐beta (IL1B), integrin II‐beta (ITGB2), novel immune type receptor 2 (NITR2), novel immune type receptor 4 (NITR4), natural killer cell lysin (NKLYSIN), nucleotide excision repair (RAD23B) and tumour necrosis factor‐alpha (TNF), were assigned to the channel catfish (Ictalurus punctatus) genetic linkage map. Polymorphic microsatellite markers were developed for NITR2, NITR4 and RAD23B from short‐tandem repeats in the available sequence. Polymorphic microsatellite markers were developed for the remaining 15 genes by short‐tandem repeat‐anchored primer sequencing of catfish bacterial artificial chromosomes. Two gene clusters (MYOG–NRAMP–ADORA1) and (CCR4–CCR2–CCR5) displayed conservation of synteny between catfish and mammals. Assignment of 18 new genes to the catfish linkage map will further advance integration of genetic and physical maps and comparative mapping between channel catfish and map rich species.
Abnormalities of human sex chromosomes. V. A unifying concept in relation to the gonadal dysgeneses
Authors: German James 
Published: July 2010

Turner's syndrome and variations of Turner's syndrome including “mixed” gonadal dysgcnesis may be viewed as members of a single group of disorders, the gonadal dysgeneses. Seven patients are described whose various clinical and cytogenetic features make them represcntative of the many individuals with one of the gonadal dysgeneses reported from other clinics. The developmental abnormalities which occur, including dysgenetic gonadal tissue, may be traced to the presence during embryonic life of a monosomic (45, X) or a genetically deficient (e.g., 46, XXqi) cell line, whereas a degree of normal gonadal development in some individuals may he traced to the presence also of normal female or male cells.A unifying explanation for these disorders is presented in terms of a single erroneous chromosomal event occurring after fertilization. Such an event may well be an intrachromosomal rearrangement affecting either an X or a Y, from which may derive a cell line containing a structurally abnormal sex chromosome, a monosomic cell line, or both. The preponderance of affected individuals showing non‐mosaic monosomy (45, X), or the mosaic combination of monosomic cells with cells having a structurally rearranged X or Y chromosome, points to the zygote as the cell in which the disruptive event occurs most often. The less frequent co‐existence of normal diploid cells with abnormal (monosomic or deficient) cells indicates that the disruptive event sometimes occurs in an early postzygotic cell.
Sex difference in alcohol metabolism; androgenic steroid as an inducer of kidney alcohol dehydrogenase
Authors: Ohno S. , Stenius C. , Christian L. C. 
Published: July 2010

Available genetic evidence on a number of other species shows that alcohol dehydrogenase (ADH: 1.1.1.1) seen in liver and kidney of vertebrates is specified by the same gene locus. Also in the case of man and the mouse, ADH from liver and kidney show identical electrophoretic mobilities. Yet, in development, ADH appears much earlier in liver than in kidney, and a twofold sex difference is seen in the amount of ADH contained in adult kidney of mice and man: Kidney ADH activity of adult females is about one‐fourth and that of adult males is about one‐half of the liver ADH activity.When castrated adult male and female mice are given 10 mg testosterone, kidney ADH activity rises to about the same level as liver ADH.On the basis of the above, we postulate that the ADH locus of kidney but not of liver is under the control of a secondary repressive genetic regulatory mechanism. This genetic block on transcriptional and translational activity of the ADH locus is removed by androgenic steroid which serves as an inducer. As long as this block is completely removed, the ADH locus of kidney functions at about the same innate rate as the ADH locus of liver.
Gardner's syndrome: Formal genetics and statistical analysis of a large Canadian kindred
Authors: Pierce Edward R. , Weisbord Tim , McKusick Victor A. 
Published: July 2010

In a large Canadian kindred 71 members manifested at least one component of the Gardner's syndrome triad. Thirty‐seven manifested polyposis only (including 10 cases of deduced polyposis), ten members manifested soft tissue abnormality only, and one kindred member manifested bone abnormality only. Nineteen kindred members manifested two triad components; 15 had soft tissue abnormality and polyposis, whereas four had polyposis and bone involvement. Four kindred members exhibited the complete triad, while two known to possess the Gardner gene failed to manifest any triad stigmata.1. Polyposis. Mean age at onset of symptoms in 30 proven cases was 32.2 years, age at polyposis diagnosis in 48 proven cases was 31.4 years, and age at diagnosis of cancer secondary to polyposis in 25 cases was 37.2 years. Fourteen deduced polyposis cases were diagnosed at a mean age of 57.1 years.2. Hard and soft tissue abnormality. Lack of precise age at onset precluded statistical analysis. The findings described cover the full spectrum of extra‐colonic involvement now associated with Gardner's syndrome.3. Formal genetics. Males and females were equally affected. The calculated frequency at birth of individuals heterozygous for the Gardner syndrome gene was 1 in 14,025. Kindred members affected with Gardner's syndrome had a relative biological fitness of 82.2 per cent (males 78.9 per cent and females 85.7 per cent). The estimated mutation rate at the Gardner locus was 13 mutations per million loci per generation. In this kindred, the Gardner syndrome gene was 83.9 per cent penetrant. Possible sources of bias entering into the above calculations are discussed.
Discontinuity and quasi‐continuity: Alternative hypotheses of multifactorial inheritance
Authors: Morton N. E. , Yee Shirley , Elston R. C. , Lew Ruth 
Published: July 2010

Consequences of three models of multifactorial inheritance are deduced for inbreeding effects and recurrence risks, and methods are developed to test goodness of fit. Applying the computer program DISQUAC to several bodies of data, we find that every one which fits a quasi‐continuous modcl also fits a discontinuous one.Our results show that it is exceedingly difficult, and may be practically impossible, to infer the genetic basis of traits which do not give regular mendelian ratios. The only consolation is that predicted recurrence risks are esscntially the same for similar models. Thus the two quasi‐continuous models of Falconer and Edwards, which assume cumulative gene action, seem in practice indistinguishable, while the genetic load model can be differentiated only if there is significant dominancc. Useful predictions for genetic counseling may be made from a well‐fitting model even when the mode of inheritance is unclear. In particular, it is shown how to estimate the probability of affection in the next child afterssibs have been born, of whomrwere affected, when there is no birth order effect.
Antibodies to inherited &‐lipoprotein antigens in the serum of multiply transfused patients
Authors: Berg Kåre , Bearn Alexander G. 
Published: July 2010

Sera from 223 multiply transfused patients have been tested for the piesence of prccip:tating antibodies to inherited β‐lipoprotein antigens. Twelve sera containing strong precipitins were found, all but one originated from a group of 85 patients with thalassaemia. The last strong antiserum came from 1 of 19 patients with coagulation defects. No precipitating antibodies were found in the sera from 114 patients with different malignant diseares.The specificities of 10 of the 12 antisera were compared with one another, as well as with those of some of the previously described lipoprotein antisera. The existence of the spezificity Ld(a) was confirmed by the finding of two antisera containing antibody to this antigen and one possibly demonstrating the product of an allele to Lda. Two antisera contained precipitins not obviously related to the Ld or Ag antibodies. The remaining antisera demonstrated Ag antigens. Thus, the antigens demonstrated by the isoimmune sera of the present seriey apparently belong to 3 groups of related genetic factors.
Unilateral colour vision disturbance. A family study
Authors: Mol E. C. de Vries‐de , Went L. N. 
Published: July 2010

A man with a unilateral colour vision defect is reported. The defect of his right eye can best be defined as lying between deuteranopia and extreme deuteranomaly. The left eye was unusual in that it gave a normal Rayleigh equation on the anomaloscope but abnormal readings, classical for red‐green defectives, with the Ishihara test plates. Two cousins and an uncle had bilateral colour vision defects closely resembling the defect from the right eye of the proband. Various explanations were sought for the findings, but ocular pathology, abnormal sex chromosome numbers, and mosaicism with Lyonization as well as somatic back mutation all seem to be unsatisfactory as such.Three other published cases of a unilateral colour vision defect, two in males and one in a female, are discussed, as is the presence of bilateral colour vision defects in one each of three presumably monozygotic female twin pairs.
Biochemical and immunological characterization of ceruloplasmin genetic variants
Authors: Shokeir M. H. K. 
Published: July 2010

The results of biochemical and immunological characterization of five electrophorctic variants of human serum ceruloplasmin in Negroes are described. The variants were found to differ in the surface charge of the protein moeities of their molecules. No difference in their molecular weights could, however, be ascertained. The specific activities of the variants were strictly similar. Compared to the normal form CpB, CpA is more resistant and Cp Bpt is more susceptible to inhibition by either cyanide or azide of their oxidase activity while CpNH and CpA appear to resemble CpB in this regard. Citrate exerts uniform inhibition on all variants.Based on the differences in susceptibility to inhibition, the relative concentration of CpA to CpB protein in the CpAB heterozygote has been estimated to be 2:1. This may indicate that alleles at the ceruloplasmin locus (Cp) determine ceruloplasmin synthesis with different efficiencies. However, except for the Cp Bpt variant, the total level of ceruloplasmin protein in the serum appears to be regulated by a mechanism independent of the Cp phenotype and extrinsic to its structural genes.The objectives of these studies have been (A) to establish the distinctiveness of ceruloplasmin variants, (B) to provide means of identification and definition of new variants which may not differ electrophoretically from each other or from the variants already described, e.g. through differences in their inhibition profile, (C) to gather and assemble the necessary information to construct a model for control of quantitative expression of ceruloplasmin protein.