Sperm chromosome complements from two human reciprocal translocation heterozygotes

Summary Using the hamster oocyte/human sperm fusion technique, we studied sperm chromosome complements in two male reciprocal translocation heterozygotes, 46,XY,t(11;17)(p11.2;q12.3) and 46,XY,t(1;11) (p36.3;q13.1). For the t(11;17) carrier, 202 sperm chromosome complements were obtained, but 18 karyotypes were not included in the segregation data because of multiple breaks and rearrangements. The alternate and adjacent I types, adjacent II, and 31 segregations accounted for 38.6%, 32.1%, 26.6%, and 2.7% of the sperm analyzed from the t(11;17) carrier. A total of 575 sperm chromosome complements was obtained using sperm from the t(1;11) heterozygote, and 27 karyotypes were excluded from the segregation data because of multiple breaks and rearrangements. For the t(1;11) carrier, the alternate and adjacent I types, adjacent II, and 31 segregations were responsible for 31.4%, 42.9%, 15.9%, and 8.0% of the analyzed sperm chromosome complements. Chromosomal abnormalities unrelated to the translocation, particularly the conservative estimate of aneuploidy frequency, were within the range observed in normal men. Hence, there was no evidence for an interchromosomal effect causing meiotic nondisjunction, despite the large sample sizes studied.     

Structure of the majorO-glycosidic oligosaccharide of monkey erythrocyte glycophorin

Sialic acids and the majorO-glycosidic oligosaccharide of glycophorin MK from monkey (Japanese monkey,Macaca fuscata) erythrocyte membranes were characterized.N-Glycolylneuraminic acid (neu5Gc) was found as the major sialic acid, which was confirmed by gas-liquid chromatography-mass spectrometry as the trimethylsilyl methyl ester. ThreeO-glycosidic oligosaccharide units were obtained from a tryptic glycopeptide that contained all of the carbohydrate units in glycophorin MK by mild alkaline borohydride/borotritide treatment. Carbohydrate analyses of the oligosaccharides revealed that they were composed of Neu5Gc, galactose andN-acetylgalactosaminitol in the molar ratios of 111 (trisaccharide), 211 (tetrasaccharide) and 111 (pentasaccharide). The content of oligosaccharide units was estimated to be 1125 for penta-, tetra- and trisaccharide, respectively, based on the yields, the molecular weight, and the number of oligosaccharide attachment sites in the amino-acid sequence. The tetrasaccharide was the major oligosaccharide and its structure was proposed to be Neu5Gc2-3Gal1-3[Neu5Gc2-6]GalNAcol.     

Meiotic segregation of five different reciprocal translocations in the onion fly,Hylemya antiqua (Meigen)

For one translocation (T14) with short interstitial segments in Hylemya antiqua significant differences in segregation behaviour between males and females were observed. In males the ratio of alternate:adjacent 1:adjacent 2 was approximately 730 and in females about 813. This difference is attributed to the difference in type of chromosome association. Female meiosis is chiasmate and male meiosis is achiasmate. It is suggested that meiotic pairing in males results in relative short Coorientation Determing Distances (CDDs) between homologous centromeres which favours alternate and adjacent 1 segregation. In females because of non-localized chiasmata on the average no differences in CDD between homologous and nonhomologous centromeres are expected. This might explain the occurrence of coorientation between non-homologous centromeres resulting in adjacent 2 segregations. Four other translocations with longer interstitial segments than T14 showed in males as well as females predominantly an alternate and adjacent 1 segregation, adjacent 2 was hardly found (0–3.6%). The longer distance between non-homologous centromeres is probably the reason.     

Relationships of Agropyron intermedium chromosomes determined by chromosome pairing and alcohol dehydrogenase isozymes in common wheat background

Summary The relationships of Agropyron intermedium chromosomes in two wheat-Agropyron addition series were determined. Chromosome pairing behaviour revealed that the alien chromosome in lines TAF-2 and L7 of Vilmorin-A. intermedium set are homologous to the alien chromosomes in lines P and C of the Caribo-A. intermedium set respectively. Localization of alcohol dehydrogenase isozyme genes in Vilmorin-Agropyron addition line L4 and in Caribo-Agropyron line O indicated relationships with wheat chromosomes of homoeologous group 4.     

Possible complex translocation t(9; 14; 13)(q12;pl?;q31) in mother of a child with 9p-trisomy syndrome

Summary A mentally retarded boy with trisomy 9p is described. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in his mother, who has a complex translocation involving chromosomes 9, 13, and 14. Based on both G-, Q-banding, and DNA replication patterns, the patient's karyotype was identified as 47,XY,-13, +(9;13) (9pter9q12::13q3113qter), +t(13;14) (13pter13q31::14pl?14pter). We suppose his mother's karyotype to be 46,XX,-9,-13,-14,+t(9;13) (9pterq12::13q3113qter), +t(13;14) (13pter13q31::14pl?14pter), +t(9;14) (9qter9q12::14pl?14qter). His phenotypically normal brother and sister are also carriers, having the same translocation chromosome as their mother. Clinical findings of the patient included peculiar face with hypertelorism, prominent nasal bridge and deformed helix, marked delay of osseous development, hypoplastic phalangia in fingers and toes, dysplastic nails and absence of digital triradii.     

Random chemical modification of the oxygen-linked chloride-binding sites of hemoglobin: Those in the central dyad axis may influence the transition between deoxy- and oxy-hemoglobin

The features of random chemical modification are defined with reference to acetylation of bovine hemoglobin, which has been performed in a random manner so that all of the amino groups that participate in functional chloride binding (i.e., those that are oxygen-linked) could be identified. Random chemical modification, which has objectives different from those of both specific (selective) and extensive chemical modification, has been achieved for bovine hemoglobin with the mild reagent,¹⁴C-methyl acetate phosphate; retention of function was demonstrated by a Hill coefficient ofn=2.2 for the modified hemoglobin. After removal of unmodified Hb chains, the mixture of randomly modified acetylated or chains was subjected to tandem treatment with trypsin and chymotrypsin. Peptides were purified by HPLC and identified by amino acid analysis. The amount of radioactivity in the acetylated amino group of a purified peptide was taken as an estimate of the degree of chloride binding. For bovine Hb, two amino groups of the -chain (Val-1 and Lys-99) and three amino groups of the -chain (Met-1, Lys-81, and Lys-103) were shown to be oxygen-linked (i.e., to have incorporated significantly more radioactivity in the deoxy conformation compared to the same site in the oxy conformation). Three of these sites were already known chloride-binding sites [i.e., Val-1(), the N-terminus of the -chain, and two sites between the 2 -chains of bovine hemoglobin, Met-1() and Lys-81(); these findings support the conclusions of the random modification approach. Two other chloride-binding sites, Lys-99() and Lys-103(), align the sides of the central dyad axis connecting the two well-known major chloride-binding sites of bovine Hb. The interrelationship of these five chloride-binding sites was assessed by improved molecular graphics. When viewed through the central dyad axis, the functional chloride-binding sites in the central cavity appear to be symmetrically related and to connect the two major chloride-binding sites. Modifiers or mutants that are directed at these regions in the central dyad axis may favor the deoxy conformation to provide a lower oxygen affinity by preventing the constriction of the central cavity that normally occurs upon oxygenation.     

Partial trisomy of 11 and 22 due to familial translocation t(11;22) (q23;q11), inherited in three generations

Summary A 1-year-old girl with partial trisomy of 11 (q23qter) and 22 (pterq11) is presented. She had severe mental retardation, cleft palate, congenital heart disease, congenital dislocation of the hip, and other anomalies.The extra acrocentric chromosome was identified as der(22),t(11;22) (q23;q11) from a familial translocation and by G-and R-banding methods. The mother and the maternal grandfather were carriers of balanced rcp(11;22) (q23;q11) translocations.The possible relations between phenotypic features and the karyotypes of partial trisomy 11 and 22 are discussed.     

Confirmation of regional assignment of nucleoside phosphorylase (NP) on chromosome 14 by gene dosage studies

Summary Gene dosage studies yielded results consistent with assignment of the locus for nucleoside phosphorylase to band 14q13. The red blood cells from a patient with the karyotype 47,XX,+der(14),t(8;14)(8qter8q24: :14q2114pter)pat had enzyme activity 50% higher than red cells from 47 normal controls, two trisomies involving chromosomes other than 14, and five balanced translocations involving chromosome 14. On the other hand, the red cells of a case with a karyotype 45,XX,-14,-22,+der(22),t(14;22)(14qter14q11 or 14q12::22p1122qter)mat and a case with a karyotype 47,XX, +der(14),t(14;16)(14pter14q11::16q2416qter)mat had normal activity.     

Disjunction types and their frequencies in two heterozygous reciprocal translocations of Blattella germanica (L.)

Adjacent-1, alternate-1, adjacent-2, and alternate-2 disjunction configurations were observed cytologically at metaphase I in heterozygotes from two reciprocal chromosome translocations in the German cockroach, Blattella germanica (L.). T(7; 12) shows random disjunction and the frequencies of the above four types were in a ratio of 2112 (p>0.90). T(3; 12) has directed disjunction (about 70% alternate) which is attributable to a heavy preponderance of alternate-2. No interpretable ratio occurs here except for the equality of alternate-1 and adjacent-2 types. These observations confirm the existence of two types of alternate disjunction, and provide insight into the basis for random vs directed disjunction.     

Ecological theories and Dutch nature conservation

This paper aims to achieve insight into various ecological theories in the Netherlands which have different, and sometimes opposing, views on the conservation of nature. Interviews, publications and archival research brought to light four separate theories: vitalistic/holistic, dynamic, cybernetic and chaos. Diversity is reached through stability according to vitalistic/holistic and cybernetic theories, but through change and instablility according to the dynamic and chaos theories. These two groups are working apart, and continue to have their own ideas. Prediction of the future is only possible with the vitalistic/holistic and cybernetic theories. Ecologists who adhere to these theories feel responsible and able in different ways to change ecological nature towards desirable end goals. The other two theories, dynamic and chaos, appear to be less activist.     

Circadian effects of hydrocortisone on the blood of the newt,Notophthalmus viridescens

Summary Differential counts of the leucocytes of newts,Notophthalmus viridescens, were made at four times of day (200, 900, 1400 and 2100), 72 hours after the injection of hydrocortisone acetate (experimentais) or distilled water (controls). At all times, increases in neutrophils and decreases in lymphocytes were observed in experimentais as compared to the controls (Table 1). The increases in neutrophils in the experimental newts were most pronounced at 1400, and the decreases in the lymphocytes were greatest at 2100. The least degrees of neutrophilia and lymphopenia occurred at 900. Consequently, circadian variations in response to the hydrocortisone are indicated. The possible mechanism of mediation of the variations is discussed.Supported in part by National Science Foundation grant, GY-7661, to Sweet Briar College.     

A new translocation t(1;4;11) in congenital acute nonlymphocytic leukemia (acute myeloblastic leukemia)

Summary A new translocation t(1;11;4)(1pter1p32::11q23 11q13::4p164qter) was found in the peripheral blood of a patient with congenital acute myeloblastic leukemia (AML). It was concluted that this translocation may represent a new mutation, which caused the leukemia with very high leukocytosis, hepatosplenomegaly, leukemic infiltration of the majority of the organs, and a very poor prognosis.     

One-bond carbon-proton coupling constants: Angular dependence in β-linked oligosaccharides

Summary The angular dependence of¹J_C,H in model compounds related to -linked oligosaccharides has been established by FPT INDO quantum chemical calculations. Values calculated for models of (1 1)-, (1 2)-, (1 3)- and (1 4)-linked disaccharides were compared, and the effect of the orientation of HO-2 elucidated. The angular dependence of¹J_C,H on the torsional angles ^H and ^H and the solvent dielectric constant (s) was characterized in the form:¹J_C,H = A cos2+B cos + C sin2 + D since + E + Fe. The¹J_C,H values, measured by DEPT methods for C-1-H-1 and C-X-H-X in cellobiose, cyclic trisaccharide and hexopyranoses were used to adjust the calculated angular dependences. Based on the occurrence of the conformers for agarobiose, neoagarobiose, mannobiose and methyl -xylobioside, the thermodynamically averaged <¹J_C,H > values were calculated. The results obtained (<¹J_C-1,H-1 > 162.4, <¹J_{C-4, H-4} > 147.6 Hz for methyl -xylobioside; <¹J_C-1,H-1 > 162.4 and <¹J_C-4,H-4] > 147.6 Hz for mannobiose; <¹J_C-1,H-1 > 162.8 Hz for neo agarobiose and <¹J_C-1,H-1 > 163.2 Hz for agarobiose) agree well with the experimental values of 162.7, 147.5, 160.4, 147.2, 160.9 and 165.7 Hz, respectively.     

Transposition of 9q34 and 22 (q11→qter) regions has a specific role in chronic myelocytic leukemia

Summary Six cases are reported of variant Ph translocations found among 240 patients with Ph-positive CML. Five cases had a three-chromosome rearrangement involving, in addition to chromosomes 9 and 22, chromosomes 7, 4, 2(two), and 3 respectively, and one case had a two-chromosome rearrangement 22/5. A review of the literature revealed that three- and two-chromosome variant Ph translocations are observed with equal frequency. It is postulated that all variant translocations are indeed three-chromosome rearrangements, that the specific event for the formation of the Ph chromosome is the reciprocal translocation 9/22, and that the transposition of regions 9q34 and 22 (q11qter), plays a major role in the development of CML.     

Sex determination in Sarotherodon (tilapia)

Summary The simplest possible model of the sex determination process adding autosomal influence to a minimal number of sex chromosomes was developed to explain matings of Tilapia (Sarotherodon) species. Eighteen different genotypes, each having two autosomes (AA, Aa, or aa) and two sex chromosomes (WX, WY, WW, XY, XX or YY) involved in sex determination, are predicted by the theory. Their sex (10 males and 8 females) were determined using a series of directed graphs, showing the relative strength of the chromosome pairs, developed on the basis of Chen's sex ratio results (Chen 1969). This theoretical model predicts eight different sex ratios (01, 13, 35, 11, 97, 53, 31, 10 ); three of them are not predicted by the WXYZ theory. The greatest part of these sex ratios have been obtained experimentally in extensive series of crosses between related species of Tilapia and their hybrids, carried out by several authors. The theory succeeds in explaining all of Chen's results, including those ratios 53 and 01 seen in certain crosses but not predicted by the WXYZ theory. The importance of the autosomes is seen in comparisons of the genotype pairs (AaWY, aaWY), (AaXY, aaXY) and (AAWW, AaWW) in which the first genotype in each case is male while the second is female as proven by the sex ratio results. The members of the pair differ only in the substitution of one autosome for the other. To test the theory, experiments consisting of hormonal sex reversion and a series of crosses are proposed. Finally, theoretical and practical implications of the theory are discussed.     

Modification of the properties of a translocation in the German cockroach by selection

Summary A stock of Blattella germanica bearing the interchange T(3; 12)/3;12 was subjected to close inbreeding with selection for random disjunction at metaphase I. After 3–4 generations of selection, interchange quadrivalent chiasma frequency decreased, variability in free bivalent chiasma frequency increased sharply, and individuals with either random or directed disjunction were present in the stock. Random disjunction was modified from a ratio of 2112 (adj.-1; alt.-1; adj.-2; alt.-2) to a ratio of 1111. After 7–8 generations of selection, chiasma frequency appeared to stabilize at lower than normal levels and variability decreased for both quadrivalents and free bivalents. Directed disjunction was modified from a ratio of 2114 to 1112, and no individuals with the original high level of directed disjunction were detected. Chains-of-four tended to orient randomly, especially in individuals where the ring quadrivalents showed directed disjunction. Relaxation of inbreeding, but not selection, produced an increase in chiasma frequency and variability in both free bivalents and quadrivalents, but the modified ratios for both random and directed disjunction were retained. These results are discussed with respect to inbreeding effects and genetic control of chiasma frequency and metaphase I disjunction in interchange quadrivalents.     

Targeted mapping and linkage analysis of morphological isozyme,and RAPD markers in peach

Nine different F2 families of peach [Prunus persica (L.) Batsch] were analyzed for linkage relationships between 14 morphological and two isozyme loci. Linkage was detected between weeping (We) and white flower (W), 33 cM; double flower (Dl) and pillar (Br), 10 cM; and flesh color (Y) and malate dehydrogenase (Mdh1), 26 cM. A leaf variant phenotypically distinct from the previously reported wavy-leaf (Wa) mutant in peach was found in progeny of Davie II. The new willow-leaf character (designated Wa2) was closely linked (0.4 cM) to a new dwarf phenotype (designated Dw3). Two families derived from the pollen-fertile cultivar White Glory segregated for pollen sterility, but segregation did not follow a 31 ratio. Evidence is presented suggesting that White Glory possesses a pollen-sterility gene (designated Ps2) that is non-allelic to the previously reported pollen-sterility gene (Ps) in peach. Ps2 was linked to both weeping (We-Ps2, 15.5 cM) and white flower (Ps2-W, 25.3 cM). A genomic map of peach containing 83 RAPD, one isozyme, and four morphological markers was generated using an F2 family obtained by selfing an NC174RL x Pillar F1. A total of 83 RAPD markers were assigned to 15 linkage groups. Various RAPD markers were linked to morphological traits. Bulked segregant analysis was used to identify RAPD markers flanking the red-leaf (Gr) and Mdh1 loci in the NC174RL x Pillar and Marsun x White Glory F2 families, respectively. Three markers flanking Mdh1 and ten markers flanking Gr were identified. The combination of RAPD markers and bulked segregant analysis provides an efficient method of identifying markers flanking traits of interest. Markers linked to traits that can only be scored late in development are potentially useful for marker-aided selection in trees. Alternatives for obtaining additional map order information for repulsion-phase markers in large F2 populations are proposed.This work was supported in part by the McKnight Foundation, North Carolina Biotechnology Center, North Carolina State University Forest Biotechnology Research Consortium, and the North Carolina Agricultural Research Service, Raleigh, North Carolina     

Translocation t(7p+; 13q-) associated with recurrent abortion

Summary A balanced translocation was found in a normal female with a history of four abortions. On the basis of the Giemsa-banding pattern the abnormality was interpreted as to be a translocation of a part of the long arm of chromosome 13 to the short arm of chromosome 7:t(7;13)(7qter7p22::13q1413qter;13q1413pter::7p227pter). Problems in genetic counseling are discussed with respect to this case.Supported by the Forschungsprojekt Medizinische und soziale Probleme der menschlichen Reproduktion des Ministeriums für Gesundheitswesen der DDR.     

Myocardial protection by ischemic preconditioning: The influence of the composition of myocardial phospholipids

It was the aim of this study to investigate (1) whether preconditioning modifies the fatty acid (FA) composition of myocardial phospholipids (PL), (2) whether a previous modification of membrane PL composition by the administration of coconut oil or fish oil influences the preconditioning, and (3) to compare the protective effects of preconditioning to those of dietary fish oil. To this end, three groups of rats were given during 10 weeks either a standard diet, or a standard diet +10% coconut oil, or a standard diet +10% fish oil. The preconditioning was performedin situ in the anesthetized open-chest rats by 2 cycles of 3 min left anterior descending coronary artery occlusion and 10 min reperfusion. It was followed by a 40 min ischemia and a 60 min reperfusion. ECG was recorded and used for the continuous count of the salves of extrasystoles, ventricular flutter and fibrillation. These rhythm disturbances were subsequently added and evaluated as total arrhythmias. The FA of tissue PL were analyzed in a sample of the ischemic zone the size of which was determined by means of malachite green.Coconut oil diet (rich in saturated FA) modified slightly the myocardial PL by increasing oleic acid acid and decreasing linoleic acid and resulted in the highest incidence of arrhythmias. Fish oil diet had the opposite effect in modifying drastically the PLFA (replacement of the n-6 FA by the n-3 FA) and minimizing significantly the arrhythmias in comparison with the standard diet group. The antiarrhythmic effect of preconditioning could be observed only after coconut oil had been administered and was not accompanied by a modification of PL composition. The reduction of arrhythmias in this case was comparable to that observed under fish oil administration with and without preconditioning. The size of the ischemic zone remained unchanged.We conclude that the protection by ischemic preconditioning is not mediated by the modification of the composition of heart PL, and that the n-3 FA diet had such a protective effect that no additional protection could be supplied by ischemic preconditioning.Abbreviations 120 lauric acid - 140 myristic acid - 160 palmitic acid - 161 n-7 t-trans-palmitoleic acid - 161n-7 c cis-palmitoleic acid - 180 stearic acid - 181n-9 oleic acid - 181n-7 vaccenic acid - 182n-6 linoleic acid - 183n-3- linolenic acid - 203n-6 dihomo -linolenic acid - 204n-6 arachidonic acid - 205n-3 eicosapentaenoic acid (EPA) - 224n-6 eicosatetraenoic acid - 225n-3 docosapentaenoic acid (DPA) - 226n-3 docosahexaenoic acid (DHA) - BHT butylated hydroxytoluene     

Immunofluorescence localization of the epidermolytic toxin target in mouse epidermal cells and tissue

Summary An epidermolytic toxin target was observed in keratohyalin granules of sectioned epidermis by a direct fluorescence procedure using FTC-toxin, but not by an indirect procedure using sequential reaction with toxin, anti-toxin and FTC-secondary antibody. The investigation of the two procedures was extended to keratinocytes. A dispase digestion procedure yielded three fractions which corresponded to basal, spinous and granular cells according to biochemical and morphological criteria. It was shown that the direct and indirect procedures both detected the toxin target in the keratohyalin granules of granular cells, but that the indirect procedure was very insensitive. In control experiments, the profilaggrin of keratohyalin granules was detected readily in cells by a direct procedure using FTC-antiprofilaggrin but only weakly by an indirect double antibody procedure. Insensitivity to indirect procedures thus appears to be a particular property of the keratohyalin granule site. It was shown that the toxin target was readily accessible in permeable (trypsin-isolated) granular cells but inaccessible in impermeable (dispase-isolated) cells.