Enamel thickness of 45,X females' permanent teeth.

Enamel thicknesses in 45,X females', their male and female relatives', and population control males' and females' permanent tooth crowns were determined from radiographs. The results showed that the enamel layer in both maxillary first incisors and canines of 45,X females is definitely thinner than that of control males or females. Enamel in control males' and females' teeth was about equal in size. The distance between mesial and distal dentino-enamel junctions or the thickness of "dentin" was similar in 45,X females' and in control females' teeth, but definitely smaller than in control males' teeth. These findings show that in the presence of the second sex-chromosome in the chromosome complement, whether X or Y, there is a definite and equal increase in the amount of enamel. On the other hand, in the presence of the Y chromosome in the chromosome complement, relative to the second X chromosome, there is a definite increase in the thickness of the dentin. The results of earlier studies have indicated a direct growth-promoting effect of the sex chromosomes on tooth growth, and that the effect of X and Y chromosomes is different. The present results suggest that the influence of the X- and Y-chromosome gene(s) on amelogenesis is the same in quantitative terms but different in relation to the determination of the distance between dentino-enamel junctions; the Y chromosome is more effective than the X chromosome in that respect. It is postulated that this size-increasing effect of the Y-chromosome gene(s) might result from its profound effect on cell proliferations.     

On the frequency of telomeric chromosomal changes induced by culture conditions suitable for fragile X expression

Summary Under culture conditions suitable for the expression of the fragile site Xq27, nonspecific telomeric structural changes similar to the specific fra(X) formation occurred apparently on every chromosome arm. Significant differences between individuals seem to exist. The total frequency of nonspecific terminal lesions not located on the long arm of the X chromosome was 0.22±0.17 per cell in 37 cultures examined. If telomeric lesions on Xq occur in more than 0.7% of the cells from a single culture in males and more than 1.5% of the cells from single culture in females, then this probably indicates a specific fra(X) expression. Lower percentages may be the result of nonspecific telomeric structural changes in Xq. These are expected to occur in the normal X as well and may, therefore, give rise to false positive diagnoses in the detection of hemi-, hetero-, and perhaps also homozygous fra(X) carriers.     

Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF,a human spermatogenesis gene

Summary For males with idiopathic sterility, a molecular screen specific for small lesions (microdeletions) in interval 6 of the Y chromosome was set up using 29 Y-DNA probes. A de novo microdeletion in Y interval 6 was detected in 2 out of 19 chromosomally normal sterile males. The first microdeletion includes the Y-DNA probes pY6HP35 and 12f3; the second microdeletion includes the Y-DNA probes pY6HP52, 49f, FR15-II and the subinterval C of probe 50f2. A probe of the pY6H sequence family is present in both deletions. Sequences of this family cross-hybridize to dhMiF1, a DNA sequence of a fertility gene structure on the Y chromosome of Drosophila hydei. It was possible to map the position of the Y-deletion of one patient to the distal part of Yq11.22 or the proximal part of Yq11.23, and the deletion of the second patient to the distal part of Yq11.23. These microdeletions probably do not overlap. Since AZF, a human spermatogenesis gene, has been mapped to Y interval 6, we postulate that the microdeletions detected in this chromosome region affect the functional DNA structure of the AZF gene. If this holds true, it is possible that the AZF locus, cytogenetically mapped to distal Yq11, contains two spermatogenesis genes (AZFa and AZFb) or a large gene structure comparable to the Y fertility genes of Drosophila.     

Localization of a male sex determining chromosome region in Chironomus thummi piger

Chironomus th. thummi x Ch. th. piger hybrid males were backcrossed with Ch. th. thummi females. The salivary gland chromosomes of both sexes of the backcross progeny were then studied in respect to their pairing behavior. Region D₃d-g of chromosome III showed sex specific pairing. It is concluded that within this D₃d-g region a male sex determiner of Ch. th. piger is located and that the male is the heterogametic sex.     

Genetic homology and crossing over in the X and Y chromosomes of mammals

Summary The X-Y crossover model described in this paper postulates that (1) the pairing observed between the X and the Y chromosome at zygotene is a consequence of genetic homology, (2) there is a single obligatory crossover between the X and Y pairing segments, and (3) the segment of the X which pairs with the Y is protected from subsequent X inactivation. Genes distal to the proposed crossover (pseudoautosomal genes) will appear to be autosomally inherited because they will be transmitted to both male and female offspring. Some criteria for identifying pseudoautosomal genes are outlined.The existence of a single obligatory crossover between the X and Y of the mouse is strongly supported by a recent demonstration that the sex-reversing mutation Sxr, which is passed equally to XX and XY offspring by male carriers, is transmitted on the sex chromosomes. Pseudoautosomally inherited genes may also be responsible for XX sex reversal in goats and familial XX sex reversal in man.     

C-banding and non-homologous associations

A chromosome complement formed by 16 autosomes and an Xy_p sex chromosome system was found in Epilachna paenulata Germar (Coleoptera: Coccinellidae). All autosomes were metacentric except pair 1 which was submetacentric. The X and the Y chromosomes were also submetacentric but the Y was minute. The whole chromosome set carried large paracentric heterochromatic C-segments representing about 15% of the haploid complement length. Heterochromatic segments associated progressively during early meiotic stages forming a large single chromocenter. After C-banding, chromocenters revealed an inner networklike filamentous structure. Starlike chromosome configurations resulted from the attachment of bivalents to the chromocenters. These associations were followed until early diakinesis. Thin remnant filaments were also observed connecting metaphase I chromosomes. Evidence is presented that, in this species, the Xy_p bivalent resulted from an end-to-end association of the long arms of the sex chromosomes. The parachute Xy_p bivalent appeared to be composed of three distinct segments: two intensely heterochromatic C-banded corpuscles formed the canopy and a V-shaped euchromatic filament connecting them represented the parachutist component. The triple constitution of the sex bivalent was interpreted as follows: each heterochromatic corpuscle corresponded to the paracentric C-segment of the X and Y chromosomes; the euchromatic filament represented mainly the long arm of the X chromosome terminally associated with the long arm of the Y chromosome. The complete sequence of the formation of the Xy_p bivalent starting from nonassociated sex chromosomes in early meiotic stages, and progressing through pairing of heterochromatic segments, coiling of the euchromatic filament, and movement of the heterochromatic corpuscles to opposite poles is described. These findings suggest that in E. paenulata the Xy_p sex bivalent formation is different than in other coleopteran species and that constitutive heterochromatic segments play an important role not only in chromosome associations but also in the Xy_p formation.     

A Y/5 translocation in a 45,X male with cri du chat syndrome

Summary In a patient described as a 45,X male with cri du chat syndrome, combined cytogenetic and molecular methods revealed Y euchromatic material to be translocated onto the short arm of one chromosome 5, resulting in a chromosome der(5)(5qter5p14::Yp11.31Ypter). The translocated Y euchromatin comprised only the distal short arm including the pseudoautosomal region and the so-called deletion intervals 1 and 2. A review of 45,X males from the literature showed that; most of them carry a paternally transmitted Y/autosome translocations; resulting in various autosomal deletions. Depending on the segment concerned, the deletion led to congenital malformations.     

A strongly fluorescing abnormal chromosome in a malformed child

Summary The case of a sexchromatin negative girl with multiple malformations is presented. A small metacentric chromosome was found to replace her second X chromosome, half of which was strongly fluorescing after staining with Quinacrinedihydrochloride, and late replicating after labelling with tritiated thymidine. The chromosome was interpreted as a translocation chromosome between the long arms of a Y and a partially trisomic autosome.     

Human gamma X satellite DNA: an X chromosome specific centromeric DNA sequence

The cosmid clone, CX16-2D12, was previously localized to the centromeric region of the human X chromosome and shown to lack human X-specific satellite DNA. A 1.2 kb EcoRI fragment was subcloned from the CX16-2D12 cosmid and was named 2D12/E2. DNA sequencing revealed that this 1,205 bp fragment consisted of approximately five tandemly repeated DNA monomers of 220 bp. DNA sequence homology between the monomers of 2D12/E2 ranged from 72.8% to 78.6%. Interestingly, DNA sequence analysis of the 2D12/E2 clone displayed a change in monomer unit orientation between nucleotide positions 585–586 from a tail-to-head arrangement to a head-to-tail configuration. This may reflect the existence of at least one inversion within this repetitive DNA array in the centromeric region of the human X chromosome. The DNA consensus sequence derived from a compilation of these 220 bp monomers had approximately 62% DNA sequence similarity to the previously determined 8 satellite DNA consensus sequence. Comparison of the 2D12/E2 and 8 consensus sequences revealed a 20 bp DNA sequence that was well conserved in both DNA consensus sequences. Slot-blot analysis revealed that this repetitive DNA sequence comprises approximately 0.015% of the human genome, similar to that found with 8 satellite DNA. These observations suggest that this satellite DNA clone is derived from a subfamily of satellite DNA and is thus designated X satellite DNA. When genomic DNA from six unrelated males and two unrelated females was cut with SstI or HpaI and separated by pulsed-field gel electrophoresis, no restriction fragment length polymorphisms were observed for either X (2D12/E2) or 8 (50E4) probes. Fluorescence in situ hybridization localized the 2D12/E2 clone to the lateral sides of the primary constriction specifically on the human X chromosome.     

The 47,XYY male, Y chromosome, and tooth size.

Permanent teeth of 12 individuals with a 47,XYY chromosome constitution have been examined. The tooth sizes of 47,XYY males were found to be larger than those of control males and females. In many instances the differences were statistically significant. Using these results, it was possible to conclude that a factor or factors which influence excess growth of 47,XYY males probably are in effect during prenatal life, but without doubt must be in effect very early in postnatal life. The time period needed for the achievement of final excess growth is relatively short, in the case of first permanent molars probably only from 2 1/2 to 3 1/2 years. On the basis of the finding that the Y chromosome apparently carries genes affecting tooth sizes in normal males [1], it was suggested that gene products of the extra Y chromosome could cause the observed size difference between normal and 47,XYY males. The nature of the influence of one versus two Y chromosomes on growth was discussed in terms of the possible influence of the Y chromosome on the cell divisions within the developing tooth germ.     

Die Richtungen des Nahrungsflusses im Darmtrakt der Kleinzikade Euscelidius variegatus KBM. (Jassidae)

Zusammenfassung Der Verlauf des Nahrungsflusses im Darmtrakt der Kleinzikade Euscelidius variegatus wird nach Verfütterung von farbstoffhaltiger Nährlösung ermittelt. Es wird der Beweis erbracht, daß die aufgenommene Nahrungsmenge in der Filterkammer geteilt wird und die beiden Anteile den Darmtrakt auf zwei verschiedenen Wegen in Richtung Rektalblase passieren. Ein Anteil der aufgenommenen Nährlösung wird über einen Kurzschlußweg in der Filterkammer sowohl über den Filterkammerdarm als auch über die Kryptonephridien direkt in den Enddarm gepumpt, während die in der Magentasche der Filterkammer verbleibenden Nahrungsanteile über einen langen Verdauungsweg zum After gelangen. Hierbei wird der Magentascheninhalt in den Magen gedrückt. Von dort aus passiert er den Mitteldarm und erreicht über den Enddarm den After. Der Kurzschlußweg und der Verdauungsweg können gleichzeitig benutzt werden. Der Kurzschlußweg wird von der Nahrung jedoch in viel kürzerer Zeit durchströmt als der längere Verdauungsweg.

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The directions of the flow of food in the alimentary trad of the leafhopper Euscelidius variegatus KBM. (Jassidae)

Summary The leafhopper Euscelidius variegatus is fed with synthetic food, coloured with 1% Azorubin-S. Its flow in the alimentary tract has been studied. It has been found that the sucked-in food is divided into two parts in the filter chamber, each taking different way in the alimentary tract for its flow. One part of the food is pumped into the hindgut via the short circuit way going through the filter chamber once over the Filterkammerdarm and also over the kryptonephries. That part of the food, which remains in the pocket of the filter chamber takes the long digestion way to the anus over stomach, midgut and hindgut. Both the ways could be used at the same time. But the food takes much shorter time for its passage through the short circuit way as compared to the time needed for the long digestion way.

     

Taurodontism and the presence of an extra Y chromosome: study of 47,XYY males and analytical review

A sample of 47,XYY males was examined for taurodontism to provide further information on the effects of chromosome aneuploidies on the trait. The etiology of taurodontism is reviewed in light of recent findings. Two models have been put forward to explain the association of taurodontism with chromosome abnormalities: (1) Taurodontism results from a generalized disruption of developmental homeostasis, and (2) the development of taurodontism reflects a more specific action of the genes. The recent findings in 45,X females indicate that this chromosome aneuploidy does not have any effect on the development of taurodontism, in contrast to the findings of increased frequency of the trait in individuals with extra X chromosomes. The present results in 47,XYY males suggest that the presence of an extra Y chromosome does not cause an increase in the expression of taurodontism. It is concluded that the observed variation in the occurrence of taurodontism in individuals with sex chromosomes aneuploidies does not corroborate the hypothesis of disrupted homeostasis. Instead, the findings indicate that more specific action of gene(s) on the X chromosome is involved. We suggest that the effect of the Y chromosome on growth of both enamel and dentin, possibly in a regulative way, could be involved in the balanced growth of dental structures in 47,XYY males.     

Life History of Black Seabream, Spondyliosoma cantharus, off the Canary Islands, Central-east Atlantic

Black seabream, Spondyliosoma cantharus, caught off the Canary Islands is characterized by a protogynous hermaphroditism. The size range of the catches is between 8 and 40cm, with a main distribution between 16 and 24cm. The mean length of the individuals shows an increase with increasing depth. Males:females ratio is unbalanced in favour of females (1:2.18). The reproductive season extends from late autumn to mid spring, with a peak in spawning activity in January–February. A dichromatism is found between males and females during the spawning season. Males reach maturity at a larger total length, 22.7cm (3 years old), than females, 17.3cm (2 years old). Morphometric relationship between length and mass for the whole population is described by the parameters: a=0.00732, and b=3.24747. Otoliths age readings indicate that the exploited population consists of eleven age groups (0–X years), including a very high proportion of individuals between 2 and 3 years old. The von Bertalanffy growth parameters for the whole population are: L=43.35cm, k=0.24 year–1, and t0=–0.11 year. The rates of total, natural and fishing mortality are 1.36, 0.52 and 0.84 year–1, respectively. The length at first capture is 16.8cm. The exploitation rate indicates that the stock is overfished.     

Carcinogenic potential and genomic instability of beryllium sulphate in BALB/c‐3T3 cells

Occupational exposure to beryllium (Be) and Be compounds occurs in a wide range of industrial processes. A large number of workers are potentially exposed to this metal during manufacturing and processing, so there is a concern regarding the potential carcinogenic hazard of Be. Studies were performed to determine the carcinogenic potential of beryllium sulfate (BeSO₄) in cultured mammalian cells. BALB/c3T3 cells were treated with varying concentrations of BeSO₄ for 72 h and the transformation frequency was determined after 4 weeks of culturing. Concentrations from 50–200 g BeSO₄/ml, caused a concentrationdependent increase (9–41 fold) in transformation frequency. Nontransformed BALB/c3T3 cells and cells from transformed foci induced by BeSO₄ were injected into both axillary regions of nude mice. All ten Beinduced transformed cell lines injected into nude mice produced fibrosarcomas within 50 days after cell injection. No tumors were found in nude mice receiving nontransformed BALB/c3T3 cells 90 days postinjection. Gene amplification was investigated in Kras, cmyc, cfos, cjun, csis, erbB2 and p53 using differential PCR while random amplified polymorphic DNA fingerprinting was employed to detect genomic instability. Gene amplification was found in Kras and cjun, however no change in gene expression or protein level was observed in any of the genes by Western blotting. Five of the 10 transformed cell lines showed genetic instability using different random primers. In conclusion, these results indicate that BeSO₄ is capable of inducing morphological cell transformation in mammalian cells and that transformed cells induced by BeSO₄ are potentially tumorigenic. Also, cell transformation induced by BeSO₄ may be attributed, in part, to the gene amplification of Kras and cjun and some BeSO₄induced transformed cells possess neoplastic potential resulting from genomic instability.     

Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction

Summary Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.     

Replication of chromosomal DNA in cultured abnormal human cells

Summary The replication of chromosomal DNA in a series of abnormal human cell cultures has been studied by means of DNA-fiber autoradiography. In lymphocytes with trisomy 21, in fibroblasts of 45,X; 47,XXX; 49,XXXXY; and 49,XXXXX chromosomal constitution, and in fibroblasts from a patient with xeroderma pigmentosum (De Sanctis-Cacchione syndrome), the rate of DNA replication does not differ from that in normal cells, varying in a single fork from 0.2 to 1.0 m/min with a mean of about 0.6 m/min. In fibroblasts with trisomy 7 the rate of DNA replication is greater, varying from 0.3 to 1.2 m/min with a mean of about 0.8 m/min. The sizes of replication units in all cells examined are from 80 to 500 m with a mean of about 200–300 m.     

Stability of a multiple X chromosome system and associated B chromosomes in birch aphids (Euceraphis spp.; Homoptera: Aphididae)

Autosomal dissociations are a common feature of aphid karyotype evolution, but multiple X chromosome systems are rare. Birch-feeding aphids of the genus Euceraphis, however, have X₁X₂O males as a general rule, X₁ being always much larger than X₂. Only one species has XO males, and this condition appears to be secondary. Most Euceraphis karyotypes also have one or more, usually heterochromatic, elements that occur in the same numbers in both males and females, yet behave like X chromosomes at male and female meiosis I. They appear to be supernumerary, non-functional X chromosomes, although showing greater within-species stability in size and number than typical B chromosomes. Euceraphis gillettei forms a separate group within the genus and feeds on alders (Alnus species), yet has a similar system, and the two most closely related genera, Symydobius and Clethrobius, also have additional chromosomal elements possibly representing non-functional X chromosomes. Thus the multiple X chromosome system in these aphids seems to be a primitive condition.     

47,XXY males: sex chromosomes and tooth size.

Permanent tooth crowns of 47,XXY males were found to be generally larger than those of control males and females and their first-degree male and female relatives. These results suggest that tooth-size increase in 47,XXY males is due to a direct genetic effect and support the concept of the presence of a specific growth gene (or genes) in the human X and Y chromosomes. The effect of this gene (or genes) seems to be the promotion of tooth growth, and the Y chromosome is more effective than the X chromosome in this respect.     

Characterization of the female-sterile mutant Almondex of Drosophila melanogaster

Drosophila melanogaster females homozygous for the sex-linked recessive mutation almondex (amx) are completely sterile when mated to amx males. Matings of amx X+ yield low numbers of heterozygous female offspring, which frequently show abnormalities of the thorax and abdominal sternites, and an occasional non-disjunctional, non-mutant (XO) male offspring. The results of mating experiments reported here can be explained by assuming that the cytoplasm of eggs produced by amx females is deficient for some material that is necessary for normal development.Homozygous amx females have apparently normal reporductive organs and a high egg yield. Eggs are usually fertilized. In matings to amx males, all zygotes die as embryos; in matings to non-amx males, all ordinary (XY) male zygotes and most female zygotes die as embryos. Survival to the adult stage is more frequent at higher temperatures and, surprisingly, increases also with maternal age.     

Unequal X Chromosomes in Bradysia Hygida (Diptera:Sciaridae) Females: Karyotype Assembly and Morphometric Analysis

The mitotic chromosomes of Bradysia hygida(Diptera:Sciaridae) neuroblast cells are described together with their morphometric data. Giemsa-stained neuroblast chromosomes from female and male larvae confirm the chromosome number of this species, 2n=8 (XX) and 2n=7 (XO), respectively. The karyotype assembly reveals two metacentric autosomic pairs, the A and B chromosome; a subtelocentric, the C chromosome, the smallest one; and a sexual unequal metacentric pair, X chromosome, in female karyotype and a one sexual metacentric X chromosome in male. The implications of the unequal X chromosome pair are discussed.