bluuebunny/crossref_metadata_2025_split huggingface dataset:
The role of lysosomal sialidase and β‐galactosidase in processing the complex carbohydrate chains on lysosomal enzymes and possibly other glycoproteins
Authors: SWALLOW D. M. , WEST L. F. , ELSEN A. VAN 
Published: September 2007

SummaryPrevious studies using the lectin RCA‐I from Ricinus communis have indicated that several lysosomal enzymes in the fibroblasts of patients deficient in β‐galactosidase carry excess terminal galactose. Electrophoretic studies have shown that the same enzymes and the non‐lysosomal adenosine deaminase also show excess terminal sialic acid in patients deficient in sialidase. In this paper we confirm, using Jack‐bean β‐galactosidase, that the binding to RCA‐I of the purified N‐acetyl‐β‐d‐hexosaminidase from a patient with Gm1 gangliosidosis depends on a terminal β‐linked galactose. We provide evidence, using bacterial sialidase and measuring the binding to RCA‐I, for excess subterminal galactose on the enzymes of patients deficient in sialidase. We also show that adenosine deaminase from the fibroblasts of patients deficient in β‐galactosidase has increased binding to RCA‐I. These observations suggest that in healthy individuals the carbohydrate structure of the precursors of lysosomal enzymes and possibly some other glycoproteins also includes extended carbohydrate side chains with terminal sialic acid and subterminal galactose, and that the mature enzyme extracted from tissues is the product of degradation.
A human cell‐surface antigen defined by a monoclonal antibody and controlled by a gene on human chromosome 1
Authors: ANDREWS P. W. , KNOWLES B. B. , PARKAR M. , PYM B. , STANLEY K. , GOODFELLOW P. N. 
Published: September 2007

SummaryAn antigen expressed by most human cells, but not erythrocytes, has been defined by a murine monoclonal antibody, TRA‐2–10. This antigen is expressed on the surface of human‐mouse somatic cell hybrids, and segregation analysis indicates that it is controlled by a gene located on human chromosome 1. From lysates of most human cells, surface‐labelled with 125I, TRA‐2–10 immunoprecipitates two polypeptides with molecular weights in the range of about 55000 to 73000 depending upon the cell line. Since the TRA‐2–10 polypeptides from a fibroblast cell strain and a hepatoma cell line from one individual differ, we conclude that the observed difference in molecular weight has an epigenetic origin.
Chromosome assignment, biochemical and immunological studies on a human aldehyde dehydrogenase, ALDH3
Authors: SANTISTEBAN I. , POVEY S. , WEST L. F. , PARRINGTON J. M. , HOPKINSON D. A. 
Published: September 2007

SummaryThe biochemical properties of ALDH isozymes have been examined in human tissues and one set, designated ALDH3, has been studied in detail. These components occur at highest levels in lung and stomach, but were not expressed in fetal tissues, or in blood, hair roots and fibroblasts. The ALDH3 isozymes show optimal activity with benzaldehyde and can use either NAD or NADP as cofactor. Antiserum against a partially purified ALDH3, from stomach, selectively precipitates this isozyme from human tissues and selectively recognizes an homologous component in the rat. Human and rodent ALDH3 were not immunoprecipitated by anti‐ALDH1 or anti‐ALDH2 antisera. High levels of expression were found in human‐rodent hybrids, constructed using rat hepatoma cells, and these hybrids were used to assign the human ALDH3 gene to chromosome 17.
Meiotic chromosome pairing in the normal human female
Authors: WALLACE B. M. N. , HULTÉN M. A. 
Published: September 2007

SummaryThe synaptonemal complexes of oocytes from 16–22 week human fetuses were spread using detergent, and silver‐stained for examination by light microscopy. Zygotene chromosome synapsis generally begins at the telomeres, without obvious prealignment, and proceeds towards the centromeres. Synapsis is not synchronous and longer bivalents may sometimes be completely paired before shorter ones. At pachytene, when pairing is usually complete, some regions presumed to correspond to the heterochromatic blocks of chromosomes 1, 9 and 16 may remain unpaired. Residual univalents are uncommon, and little interlocking is evident at this stage. Desynapsis indicating the beginning of diplotene frequently begins at the telomeres, although there is a general relaxation of pairing throughout the bivalents which become increasingly diffuse as diplotene proceeds. The total synaptonemal complex complement length at pachytene in the female is 519 μm, which is about twice that found in the human male. The implications of these results for genetic mapping are discussed.
The use of measured genotype information in the analysis of quantitative phenotypes in man
Authors: BOERWINKLE E. , CHAKRABORTY R. , SING C. F. 
Published: September 2007

SummaryImproved laboratory methods allow one to investigate the contribution of measured allelic variability at a locus physiologically involved in determining the expression of a quantitative trait. We present statistical methods that incorporate measured genotype information into the analysis of a quantitative phenotype that allows one simultaneously to detect and estimate the effects of a measured single locus and residual polygenic effects. Likelihoods are presented for the joint distribution of the quantitative phenotype and a measured genotype that are appropriate when the data are collected as a sample of unrelated individuals or as a sample of nuclear families. Application of this method to the analysis of serum cholesterol levels and the concentration of the group specific component (Gc) are presented. The analysis of the contribution of the commonGcpolymorphism to the determination of quantitative variability in Gc using smaples of related and unrelated individuals presents, for the first time, the simultaneous estimation of the frequencies and the effects of the genotypes at a measured locus, and the contribution of residual unmeasured polygenes to phenotypic variability.
Estimation of inbreeding parameters in stratified populations
Authors: COCKERHAM C. C. , WEIR B. S. 
Published: September 2007

SummaryA clarification is given of the differences in approaches to the estimation of F‐statistics of Nei & Chesser [Ann. Hum. Genet. (1983) 47, 253–259)] and Cockerham [Genetics (1973) 74, 679–700]. The principal difference is that Nei & Chesser define quantities with respect to fixed extant populations, while Cockerham allows for evolutionary variation between populations. Weighted and unweighted analyses are compared, and a numerical example given.
The limits of ascertainment
Authors: EWENS W. J. , SHUTE N. C. E. 
Published: September 2007

SummaryThe concept of a proband, and a formula frequently used to give the probability that a family with r affected children has t probands, have led to frequently used, but incorrect, ‘limits of ascertainment’ in estimation problems involving ascertainment sampling. Data suggesting a sampling scheme outside these incorrect limits are discussed. An estimation procedure not using the proband concept is available which is not bounded by the incorrect limits.
The gene for human muscle specific carbonic anhydrase (CA III) is assigned to chromosome 8
Authors: EDWARDS Y. H. , LLOYD J. , PARKAR M. , POVEY S. 
Published: September 2007

SUMMARYA cDNA clone complementary to the mRNA encoding the human muscle specific carbonic anhydrase CA III has been used as probe in the analysis of DNA from panels of rodent/human somatic cell hybrids. The presence of the CA III gene in all hybrids correlates with the presence of chromosome 8. This is the first assignment of the CA III gene in any species and, together with published mapping data, indicates that all of the human CA loci are situated on chromosome 8.
Phenotypic resemblance in birth weight between first cousins
Authors: MI M. P. , EARLE M. , KAGAWA J. 
Published: September 2007

SUMMARYBirth weight data on 72078 liveborn singletons representing 5981 paternal and 7036 maternal single first cousin kinships were assembled by computerized record linkage from all marriages and livebirths registered in Hawaii during a 38‐year period from 1942 to 1979. These kinships represented incrosses of five selected racial groups. An additional 15536 livebirths from 1134 paternal and 1679 maternal cousin kinships provided data on outcrossing between racial groups, and 28952 livebirths from 2379 paternal and 3538 maternal cousin kinships provided data on both incrossing and outcrossing within kinships. Phenotypic resemblance in birth weight between single first cousins was estimated by the covariance and intraclass correlation. The covariances between maternal cousins were generally much higher than those between paternal cousins. Neither heterogeneity in maternal genotypes nor heterogeneity in newborn genotypes had any significant effect on the resemblance between first cousins. These observations have led to the conclusion that maternal influences of non‐hereditary origin are of primary importance in determining birth weight in man. The observed non‐zero correlation in several groups of paternal cousins was explained in part by the process of preferential selection of mates within and among racial groups by brothers, and probably by the similarity in some maternal characteristics associated with age at childbearing among their wives.
The gene for human αaL‐lactalbumin is assigned to chromosome 12q13
Authors: DAVIES M. S. , WEST L. F. , DAVIS M. B. , POVEY S. , CRAIG R. K. 
Published: September 2007

SummaryA cDNA clone complementary to the mRNA encoding human αaL‐lactalbumin (ALA) has been used as a probe in the analysis of DNA from panels of rodent/human somatic cell hybrids. The presence of the ALA gene correlates with the presence of chromosome 12. In situ hybridization localizes the ALA gene to 12q13.
Tests of gene order from three‐locus linkage data
Authors: LATHROP G. M. , CHOTAI J. , OTT J. , LALOUEL J. M. 
Published: September 2007

SummaryExact tests for gene order are derived and compared for three loci using linkage data from phase‐known, completely informative marker loci (i.e. parents are heterozygotes with at most one allele identical at each locus), or from triple back‐cross matings. A simulation method, based on resampling genotypes of children, is introduced to obtain approximations to the distribution of the test statistics for general mating types in families consisting of children and parents, with or without grandparents, as are used in many studies in human gene mapping. The method is illustrated by an application to linkage data on chromosome 13.
Electrophoretic and immunological analysis of human glutathione S‐transferase isozymes
Authors: SUZUKI T. , COGGAN M. , SHAW D. C. , BOARD P. G. 
Published: September 2007

SummarySeveral electrophoretically distinct glutathione S‐transferase isozymes from different tissues have been purified and characterized. The data confirm the suggestion that GST‐1, GST‐2 and GST‐3 are the products of separate genetic loci.An apparently muscle‐specific isozyme termed GST‐4 has been identified and shown to differ structurally from GST‐1, GST‐2 and GST‐3. It is likely that GST‐4 is the product of an additional gene locus.Two isozymes termed GST‐5 and GST‐6 were purified from brain. GST‐5 has a different isoelectric point, but shares many structural features with GST‐1. GST‐5 may be a brain‐specific post‐translationally modified product of the GST‐1 gene. GST‐6 is an acidic isozyme found in many tissues. The data indicate that GST‐6 is composed of two dissimilar subunits that do not cross‐react with antiserum directed against GST‐1, GST‐2 or GST‐3. These observations therefore suggest that GST‐6 may have an independent genetic origin.
Genetic heterogeneity of X‐linked mental retardation with fragile X Association of tight linkage to factor IX and incomplete penetrance in males
Authors: GIANNELLI F. , MORRIS A. H. , GARRETT C. , DAKER M. , THURSTON C. , SMITH C. A. B. 
Published: September 2007

SummaryX‐linked mental retardation with fragile X or Martin–Bell Syndrome (MBS) is a frequent cause of mental retardation. So far segregation analysis of MBS in pedigrees ascertained by different, incomplete criteria has produced results, difficult to interpret, which suggest genetic complexity (Sherman et al. 1985). Biochemical and cell biological studies have failed to provide an assay for genetic heterogeneity in MBS and linkage analysis is the only available method. Such analysis, however, is complicated by the incomplete penetrance of the disease in males and the variable penetrance and expression of the defect in heterozygous females.We have used a new approach to test the heterogeneity of recombination between MBS and the coagulation factor IX gene or the anonymous probe 52A in a group of nine families who have sought genetic counselling at Guy's Hospital. We find that both our families alone and our families plus apparently complete samples of pedigrees reported in the literature, separate into two groups: one tightly and one loosely linked to factor IX. In the combined family sample these represent respectively 0·3 and 0·7 of the total and show recombination fractions of 0·0–0·15 and 0·25–0·5. Furthermore, the families with non‐penetrant carrier males show tighter linkage to factor IX than the others, thus confirming the suggestion of a systematic difference among MBS families in the recombination between the disease and the factor IX locus. By contrast, no significant differences were found in the recombination between 52A and factor IX in the two groups of MBS families or in these families versus those with Hunter syndrome examined in our laboratory.The causes of the linkage heterogeneity we describe are not known. At least two alternatives can be considered: The existence of two MBS loci or differences in the recombination between a single MBS locus and the factor IX gene. The association between incomplete penetrance and tight, linkage to factor IX as well as the discontinuous variation in recombination fraction we have observed seem to favour the former alternative.
The structural gene for lecithin:cholesterol acyl transferase (LCAT) maps to 16q22
Authors: AZOULAY M. , HENRY I. , TATA F. , WEIL D. , GRZESCHIK K. H. , CHAVES M. E. , McINTYRE N. , WILLIAMSON R. , HUMPHRIES S. E. , JUNIEN C. 
Published: September 2007

SummaryWe have used a eDNA clone for human lecithin: cholesterol acyl transferase (LCAT) and Southern blotting techniques to identify the human LCAT gene in DNA from a series of rodent x human somatic cell hybrids. Our results are compatible with the location of the gene on human chromosome 16, and this has been confirmed using in situ hybridization of the LCAT eDNA to human metaphase chromosomes. These results confirm the earlier studies on LCAT‐deficient patients, indicating that the structural gene for LCAT is on human chromosome 16g22.
Physical mapping of genes and sequences at the end of the human X chromosome short arm
Authors: MONDELLO C. , ROPERS H.‐H. , CRAIG I. W. , TOLLEY E. , GOODFELLOW P. N. 
Published: September 2007

SummaryHuman–rodent somatic cell hybrids containing deleted and translocated human X chromosomes have been used to map genes and sequences in and around the pseudoautosomal region. The following order was found: (DXS69, DXS70, DXS143)–(DXS31, STS)–MIC2. This order is consistent with the known inheritance patterns of DXS31, STS and MIC2. Assuming that the translocations and deletions we have studied are not complex rearrangements, we conclude that the pseudoautosomal region consists of less than 5 times 106 bp of DNA.
The human placental alkaline phosphatase gene and related sequences map to chromosome 2 band q37
Authors: MARTIN D. , TUCKER D. F. , GORMAN P. , SHEER D. , SPURR N. K. , TROWSDALE J. 
Published: September 2007

SummaryA human placental alkaline phosphatase (PLAP) eDNA was isolated from a Λgt10 library of the cell line HEp‐2. Southern blots probed with a fragment of the eDNA clone showed that the human genome may contain more than one PLAP‐related sequence. The PLAP probe showed person‐to‐person variation in banding pattern with a number of enzymes. Using a panel of human/rodent somatic cell hybrids the PLAP sequences were mapped to chromosome 2. In situ hybridization confirmed this assignment and localized the gene(s) to chromosome 2 band q37.
Recombination between the X and Y chromosomes: implications for the relationship between MIC2, XG and YG
Authors: GOODFELLOW P. J. , PRITCHARD C. , TIPPETT P. , GOODFELLOW P. N. 
Published: September 2007

SummaryThree loci affect the levels of expression of the 12E7 antigen on red blood cells: MIC2, the pseudoautosomal structural gene for the 12E7 antigen; XG, an X‐linked red cell blood group locus and YG, a polymorphic Y‐linked locus. In this report we describe recombination between XG and MIC2 and an exchange between the X and Y chromosomes which included YG. These results have prompted us to propose a new model describing the genetic relationship between the XGa and 12E7 antigens.
Linked polymorphic DNA markers in the prediction of X‐linked muscular dystrophy
Authors: LINDLÖF M. , SISTONEN P. , CHAPELLE A. de la 
Published: September 2007

SummaryTen polymorphic DNA markers, including gene specific markers of loci DXS164 and DXS206, were tested for allele frequencies, degree of heterozygosity and linkage in 34 Finnish families with X‐linked muscular dystrophy. With the exception of the BamHI RFLP of DXS164 subclone pERT87‐15, allele frequencies and the degree of heterozygosity failed to show any significant deviation from the data published elsewhere. We document a high degree of linkage disequilibrium between several RFLPs belonging to locus DXS164. Our linkage data include one recombination between DMD and DXS164 enabling a tentative location of the mutation site distal to DXS164. The maximum lod score for linkage between the disease locus and DX164 was 7.828 at a recombination fraction of 0.02. According to our data DXS28 and DXS43 may be located further away from the disease locus than previously thought. We use only gene specific markers for genetic counselling. Excluding deletions, 97.1 % of women were heterozygous for at least one such marker. A diagnostic procedure in which useful information can be obtained in over 90 % of all diagnostic situations, using only four filters, is proposed.
New variants of Ps salivary polymorphic proteins
Authors: MINAGUCHI K. , SHIROTANI T. , SUZUKI K. 
Published: September 2007

SummaryElectrophoretic analysis of the Ps protein demonstrated the existence of phenotypes additional to those described by Azen & Denniston (1980). A hypothesis that the polymorphism of the Ps protein is determined by five expressed and one unexpressed alleles was supported by family studies. The gene frequencies in a Japanese population were Ps1F= 0.0016, Ps1= 0.2983, Ps2F= 0.0288, Ps2S= 0.0079, Ps3= 0.0111, Ps0= 0.6523.
Klinefelter's syndrome: an analysis of the origin of the additional sex chromosome using molecular probes
Authors: JACOBS P. A. , HASSOLD T. J. , WHITTINGTON E. , BUTLER G. , COLLYER S. , KESTON M. , LEE M. 
Published: September 2007

SummaryThe results of our study of the origin of the additional X chromosome in 39 males with a 47, XXY chromosome constitution are reported. We used a total of 20 X‐linked RFLPs and successfully determined the origin of all 32 patients in whom DNA from both parents was available, and a further 3 in whom DNA was available from the patient and mother only. Males whose additional X chromosome was maternal in origin were further investigated using an X‐linked centromere specific probe to determine the cell division at which the error occurred. Our results showed 53% of the non‐disjunction to be attributable to pat mei I errors, 34% to mat mei I errors, 9% to mat mei II errors and 3% to a post‐zygotic mitotic error. In the great majority of patients resulting from an error of maternal meiosis there was clear evidence of recombination involving the non‐disjoined chromosomes, suggesting that absence of recombination is not an important aetiological factor in non‐disjunction of the X chromosome in female meiosis.There was no alteration of parental age associated with the paternally derived 47, XXY males but a marked increase in maternal age among the maternally derived 47, XXY males, the increase being associated with mat mei I but not mat mei II errors. The proportion of paternally and maternally derived cases was similar among different ascertainment classes, suggesting that there is no dramatic effect of parental origin of the additional X chromosome on the phenotype of 47, XXY males.
Assignment of complement components C4 binding protein (C4BP) and factor H (FH) to human chromosome 1q, using cDNA probes
Authors: HING S. , DAY A. J. , LINTON S. J. , RIPOCHE J. , SIM R. B. , REID K. B. M. , SOLOMON E. 
Published: September 2007

SummaryUsing cDNA probes for Factor H (FH) and C4 binding protein (C4BP) on a panel of somatic cell hybrids, we show that both of these genes map to the long arm of chromosome 1.
The human alpha‐1‐antitrypsin‐related sequence gene: isolation and investigation of its expression
Authors: KELSEY G. D. , PARKAR M. , POVEY S. 
Published: September 2007

SummaryA genomic sequence approximately 5 kb in length designated the alpha‐1‐antitrypsin‐related gene (ATR), showing considerable homology to the human alpha‐1‐antitrypsin (AAT) gene, was identified 10 kb downstream of the authentic AAT gene. The AAT and ATR genes were introduced separately into L‐cells by transfection in order to establish a method for distinguishing between expression of the two genes. RNA probes from the cloned ATR region were then used in a ribonuclease protection assay against RNA from a range of human adult and fetal tissues. No evidence of expression of ATR was found, indicating that this region is probably a pseudogene.
Genetic polymorphisms of the Pmol and Pmo2 salivary proteins detected by the modified protein staining method
Authors: MINAGUCHI K. , SUZUKI K. 
Published: September 2007

SummaryTwo polymorphic proteins, Pmo1 and Pmo2, were found in human parotid saliva by modifying the protein staining method of Sung & Smithies (1969). The inheritance of each polymorphism was controlled by a dominant allele at an autosomal locus. This hypothesis was supported by studies in 50 families including 103 children. The gene frequencies were Pmo1+= 0.308, Pmo1‐= 0.692, Pmo2+= 0.026, Pmo2‐= 0.974. The Pmo1 and Pmo2 proteins reacted immunologically with antisera prepared to salivary proline‐rich proteins (Pr and Gl). The isoelectric point was in excess of 8.58. These results showed that the Pmo1 and Pmo2 proteins belong to the basic proline‐rich proteins in human parotid saliva.
Inheritance and linkage data for an unusual combination of genes (at the LKE, PI and C6 loci) in a single large sibship
Authors: WHITEHOUSE D. B. , ATTWOOD J. , GREEN C. , BRUCE M. , McQUADE M. , TIPPETT P. 
Published: September 2007

SummaryAnalysis of the groups of a large sibship showed that the locus for the blood group LKE is not closely linked to the loci for MNS, Rh, HLA, Pi, Gm and C6 and is genetically independent of the loci for P1, K, Xg, Au, secretor, and C3. The locus for the Auberger (Au) blood group was shown to be genetically independent of the locus for the blood group Kell and of the loci for C3, C6, Gc, HLA, Pi and Gm groups.