RNA synthesis in Drosophila melanogaster polytene chromosomes indications of simultaneous dosage compensation and dosage effect in X chromosomes

It is shown that the apparent incompleteness of dosage compensation when RNA synthesis is measured autoradiographically is not due to the existence of contiguous dosage compensated and non-dosage compensated genes. Rather this seems to be the result of peculiarities in the coordination of RNA synthesis between the X chromosomes and autosomes. The slope of the line defined by \([\bar X]_i \) and \([\overline {2R} ]_i \) (number of grains over the X and autosomal segments averaged over the different nuclei assayed in each gland) is indistinguishable in males and females (apparent complete dosage compensation). An average of the slopes obtained for different individual glands (from [X] and [2R], the grain counts over each nucleus belonging to a particular gland), on the other hand, has a value in males which is approximately half of the value attained by females (a value of one half, in males, indicates dosage effect since males have one X and females have two).     

Expression of Maternally and Embryonically Derived Hypoxanthine Phosphoribosyl Transferase (Hprt) Activity in Mouse Eggs and Early Embryos

X-chromosome activity in early mouse development has been studied by a gene dosage method that involves measuring the activity level of the X-linked enzyme hypoxanthine phosphoribosyl transferase (HPRT) in single eggs and embryos from XO females and from females heterozygous for In(X)1H, a paracentric inversion of the X chromosome. The HPRT activity in oocytes increased threefold over a 24-hr period beginning after ovulation. Afterward, the activity plateaued in unfertilized eggs but continued to increase for at least 66 hr in presumed OY embryos. Both before and after ovulation, the level of activity in unfertilized eggs from In(X)/X females was twice that from XO females, and the distributions of activity in eggs for both sets of females remained unimodal. Beginning with the two-cell stage, distributions of activity for embryos from In(X)/X females were trimodal, which is evidence for embryonic activity. It is proposed that activation of a maternal mRNA or proenzyme is responsible for the HPRT activity increase in oocytes and early embryos and is supplemented by dosage-dependent activity of the embryonic Hprt gene as early as the two-cell stage.     

Chromosomal segregational mechanisms in ant-lions (Myrmeleontidae,Neuroptera)

In a single male specimen of Myrmeleon mexicanum Banks the sex chromosomes, normally X and Y, were replaced by what appeared to be X¹X² and Y. These segregated as expected on that interpretation in only half of the spermatocytes — in the other half, one X and the Y segregated from the other X. This atypical segregation is explicable on the assumption that one of the supposed Xs is a supernumerary, not a sex chromosome, and the diploid complement of the male comprises six pairs of autosomes plus a supernumerary and the X and Y sex chromosomes. The orientation of the X chromosomes at first metaphase was variable: kinetochoric activity may be localized midway the length of the chromosome, as in gonial mitosis, or terminally. Comparative study of three congeneric species, seven of Brachynemurus, one of Psammoleon, and one of Vella showed normal segregation in all, and no evidence for secondary kinetochoric activity. In nine of the species studied one pair of autosomes was unconjoined at first metaphase in 0.3%–1.2% of primary spermatocytes. These autosomes segregated precociously with the sex chromosomes in the central unit of the spindle. In one exceptional male of Brachynemurus hubbardi Currie all first meiotic metaphases showed this behavior, and a compound X¹X²/Y¹Y² system was thus simulated. Bivalent formation replaced distance segregation of sex chromosomes in 0.4%–3.2% of the spermatocytes in seven of the thirteen species studied. These sex-bivalents frequently displayed partial or complete failure in congression.     

The chromosomes of Schoutedenia lutea (homoptera,aphidoidea, greenideinae), with an account of meiosis in the male

Somatic chromosomes of both sexes and chromosome behaviour during spermatogenesis were studied in the aphid Schoutedenia lutea (van der Goot). Four long but unequal chromosomes in females were interpreted as X chromosomes (X₁X₁X₂X₂) with one member of an autosome pair attached to one X₁, and the other member to one X₂, so that the four long chromosomes were actually X₁+A, X₁, X₂+A, X₂. Males (normally XO in aphids) received X chromosomes corresponding in relative length to the two longest (X₁+A, X₂+A) in females. During spermatogenesis parallel pairing occurred in prophase 1 and the X₁ and X₂ chromosomes became associated via their autosomal segments. In anaphase I, the autosomal segment became detached from one of the X chromosomes and entered the non-viable (non-X-bearing) spermatocyte, while the viable spermatocyte received both X₁ and X₂ (either one of which still carried an autosome) and the haploid set of free autosomes. The consequences for sex determination and zygote formation of this unusual system are discussed; a stable chromosomal constitution for the zygote can be achieved only at the expense of considerable gamete wastage.     

New insights into sex chromosome evolution in anole lizards (Reptilia,Dactyloidae)

Anoles are a clade of iguanian lizards that underwent an extensive radiation between 125 and 65 million years ago. Their karyotypes show wide variation in diploid number spanning from 26 (Anolis evermanni) to 44 (A. insolitus). This chromosomal variation involves their sex chromosomes, ranging from simple systems (XX/XY), with heterochromosomes represented by either micro- or macrochromosomes, to multiple systems (X₁X₁X₂X₂/X₁X₂Y). Here, for the first time, the homology relationships of sex chromosomes have been investigated in nine anole lizards at the whole chromosome level. Cross-species chromosome painting using sex chromosome paints from A. carolinensis, Ctenonotus pogus and Norops sagrei and gene mapping of X-linked genes demonstrated that the anole ancestral sex chromosome system constituted by microchromosomes is retained in all the species with the ancestral karyotype (2n?=?36, 12 macro- and 24 microchromosomes). On the contrary, species with a derived karyotype, namely those belonging to genera Ctenonotus and Norops, show a series of rearrangements (fusions/fissions) involving autosomes/microchromosomes that led to the formation of their current sex chromosome systems. These results demonstrate that different autosomes were involved in translocations with sex chromosomes in closely related lineages of anole lizards and that several sequential microautosome/sex chromosome fusions lead to a remarkable increase in size of Norops sagrei sex chromosomes.     

Sequence of Centromere Separation: Role of Centromeric Heterochromatin

The late metaphase-early anaphase cells from various tissues of male Mus musculus, M. poschiavinus, M. spretus, M. castaneus, female and male Bos taurus (cattle) and female Myopus schisticolor (wood lemming) were analyzed for centromeres that showed separation into two daughter centromeres and those that did not show such separation. In all strains and species of mouse the Y chromosome is the first one to separate, as is the X or Y in the cattle. These sex chromosomes are devoid of constitutive heterochromatin, whereas all autosomes in these species carry detectable quantities. In cattle, the late replicating X chromosome appears to separate later than the active X. In the wood lemming the three pairs of autosomes with the least amount of centromeric constitutive heterochromatin separate first. These are followed by the separation of seven pairs of autosomes carrying medium amounts of constitutive heterochromatin. Five pairs of autosomes with the largest amounts of constitutive heterochromatin are the last in the sequence of separation. The sex chromosomes with medium amounts of constitutive heterochromatin around the centromere, and a very large amount of distal heterochromatin, separate among the very late ones but are not the last. These observations assign a specific role to centromeric constitutive heterochromatin and also indicate that nonproximal heterochromatin does not exert control over the sequence in which the centromeres in the genome separate. It appears that qualitative differences among various types of constitutive heterochromatin are as important as quantitative differences in controlling the separation of centromeres.     

Influence of Gene Duplication and X-Inactivation on Mouse Mitochondrial Malic Enzyme Activity and Electrophoretic Patterns

We have investigated, with and without the influence of X-inactivation, the relationship between autosomal gene-dosage and gene-product in a mammalian system, the mouse. The gene was mitochondrial malic enzyme (Mod-2), shown to lie on Chromosome 7 between the albino (c) and shaker-1 (sh-1) loci, and the enzyme was its product, mitochondrial malic enzyme (MOD-2). Gene duplication, with and without the influence of X-inactivation, was achieved using a translocation that involves the insertion of a portion of Chr 7, including Mod-2 , into the X, T(X;7)1Ct. A 1:1 relationship for Mod-2 dosage and MOD-2 activity was found in heart mitochondria. Evidence of X-inactivation of Mod-2 was noted in heart and kidney preparations from females carrying a Mod-2 duplication (one copy of Mod-2 in the X and two copies of Mod-2 on Chr 7). We conclude that the expression of an autosomal locus attached to X-chromatin depends upon whether the translocation is in a balanced or unbalanced state.     

Compound Autosomes in DROSOPHILA MELANOGASTER: The Meiotic Behavior of Compound Thirds

Studies of the meiotic distribution of compound-3 chromosomes in males and females of Drosophila melanogaster provided the following results. (1) From females homozygous for the standard arrangement of all chromosomes other than C(3L) and C(3R), less than 5% of the gametes recovered were nullosomic or disomic for compound-3 chromosomes. The frequency of nonsegregation differed between strains, but within a given strain it remained relatively constant. (2) According to egg-hatch frequencies, C(3L) and C(3R) segregate independently during spermatogenesis. (3) In females, structurally heterozygous second chromosomes occasion a marked increase in the recovery of nonsegregational progeny; in males, rearranged seconds have no apparent influence on the distribution of compound thirds. (4) The highest frequencies of nonsegregational progeny were recovered from C(3L);C(3R) females carrying compound-X (plus free Y) chromosomes. (5) In comparing the recovery of nonsegregating compound thirds to the recovery of rearranged heterologs, a definite nonrandom distribution was realized in several crosses. These results are examined in reference to the concepts of distributive pairing (Grell 1962). Moreover, considering the structural nature of compound autosomes, we propose that nonhomologous (distributive) pairing is a property of the centromeric region and suggest that rearrangements involving breaks in this region possibly alter the effectiveness of distributive pairing forces.     

Meiotic Behavior of Compound Autosomes in Females of DROSOPHILA MELANOGASTER: Interchromosomal Effects and the Source of Spontaneous Nonsegregation

In females of Drosophila melanogaster, compound autosomes enter the repulsion phase of meiosis uncommitted to a particular segregation pattern because their centromeres are not restricted to a bivalent pairing complex as a consequence of crossing over. Their distribution at anaphase, therefore, is determined by some meiotic property other than exchange pairing, a property that for many years has been associated with the concept of nonhomologous pairing. In the absence of heterologous rearrangements or a free Y chromosome, C(3L) and C(3R) are usually recovered in separate gametes, that is as products of meiotic segregation. Nevertheless, there is a regular, albeit infrequent, recovery of reciprocal meiotic products (the nonsegregational products) that are disomic and nullosomic for compound thirds. The frequency of these exceptions, which is normally between 0.5 and 5.0%, differs for the various strains examined, but remains constant for any given strain. Since previous studies have not uncovered a cause for this base level of nonsegregation, it has been referred to as the spontaneous frequency. In this study, crosses between males and females whose X chromosomes, as well as compound autosomes, are differentially marked reveal a highly significant positive correlation between the frequency of compound-autosome nonsegregation and the frequency of X-chromosome nondisjunction. However, an inverse correlation is found when the frequency of nondisjunction is related to the frequency of crossing over in the proximal region of the X chromosome. These findings have been examined with reference to the distributive pairing and the chromocentral models and interpreted as demonstrating (1) that nonsegregational meiotic events arise primarily as a result of nonhomologous interactions, (2) that forces responsible for the segregation of nonhomologous chromosomes are properties of the chromocentral region, and (3) that these forces come into expression after the exchange processes are complete.     

Reinvestigation of the chromosomes of a male owl monkey (Aotus trivirgatus) and its hybrid son

A male owl monkey, probably belonging to Aotus trivirgatus nigriceps, was found to have 51 chromosomes. Since the Y chromosome is lacking, the odd diploid number probably is the result of a Y-autosome translocation. However, there are two autosomes from different pairs that theoretically could contain the Y. This specimen produced a male young with a female A. trivirgatus griseimembra, having a karyotype with 54 chromosomes. The diploid number of the hybrid is 52, including 28 paired and 24 unpaired elements. Comparison of the paternal, maternal and hybrid karyotypes using Q- and C-banding techniques permit conclusions on the rearrangements (fusions, reciprocal translocations, inversions and insertions) that could possibly have led to the karyological differences between both subspecies.     

Variations in the Number of the Y Chromosomal Rrna Genes in DROSOPHILA HYDEI

The number of rRNA cistrons is measured by filter saturation hybridization in different stocks of D. hydei, where the wild-type X chromosome has one nucleolus organizer (NO) and the wild-type Y has two separated NO's. (see PDF) females having no X chromosomal NO show an rDNA content exceeding that of a Y chromosome. An even greater increase in the rRNA cistron number is measured in two translocation stocks where the (see PDF) is combined with one half of a Y and, therefore, each stock contains only one of the two Y chromosomal NO's. But when the same Y fragments are brought together with a wild-type X chromosome they lose about one-half of their rRNA cistrons within one generation. Males with two complementary Y fragments but having no X chromosomal NO show a considerably higher rDNA content than the (see PDF) females, although both are equal in respect of their NO number. Consideration is given to related phenomena in Drosophila melanogaster.     

A complex sex-chromosome system in the hare-wallaby Lagorchestes conspicillatus Gould

Among specimens of the spectacled hare-wallaby Lagorchestes conspicillatus Gould (Marsupialia, family Macropodidae) 4 males had 15 chromosomes and 2 females 16 chromosomes. The sex chromosomes are X₁X₁X₂X₂ in the female and X₁X₂Y in the male, the Y being metacentric and both X chromosomes are acrocentric. In about 96% of sperm mother cells at meiosis the sex chromosomes form a chain trivalent and in more than 99% of these this orients convergently so that the X₁ and X₂ move to the same pole. Evidence is presented that L. conspicillatus has evolved from a form with 22 chromosomes including a small X and a minute Y. Autoradiographic studies show that the proximal fifth of the X₁ chromosome replicates late. This is probably the ancestral X chromosome which has been translocated to an autosome. The fate of the original Y is obscure but an hypothesis is proposed that it forms the centromeric region of the Y. A single male had 14 chromosomes and was heterozygous for a translocation involving the centric fusion of two acrocentric autosomes. In about 30% of sperm mother cells the autosomal trivalent did not disjoin regularly but, despite this, all secondary spermatocytes observed at metaphase 2 had balanced complements of chromosomes. It is assumed that unbalanced secondary spermatocytes died before reaching metaphase.     

Faced with inequality: chicken do not have a general dosage compensation of sex-linked genes

Background  

The contrasting dose of sex chromosomes in males and females potentially introduces a large-scale imbalance in levels of gene expression between sexes, and between sex chromosomes and autosomes. In many organisms, dosage compensation has thus evolved to equalize sex-linked gene expression in males and females. In mammals this is achieved by X chromosome inactivation and in flies and worms by up- or down-regulation of X-linked expression, respectively. While otherwise widespread in systems with heteromorphic sex chromosomes, the case of dosage compensation in birds (males ZZ, females ZW) remains an unsolved enigma.     

Genetics of esterases in Drosophila. III. Influence of different chromosomes on esterase pattern in Drosophila

The present report presents the results of starch and polyacrylamide gel electrophoretic studies of the influence of the X chromosome on the expression of esterase-6 in D. melanogaster × D. simulans hybrids heterozygous for locus Est-6 as well as studies of the influence of autosomes on esterase expression in Drosophila of the virilis group. A differential expression of esterase-6 has been detected in D. melanogaster × D. simulans hybrid males. A differential decrease in the activity of esterase-6 (both F and S allozymes) derived from D. melanogaster has been noted. In hybrid females, the activity of parental esterases is the same. It is suggested that the X chromosome regulates the expression of esterase-6 in D. melanogaster. Analysis of individuals obtained in different schemes of crosses between different species of Drosophila of the virilis group by use of stocks marked with mutations in various chromosomes indicates that other autosomes (in particular, autosomes 4 and 5) also influence the phenotypic expression of esterases (which are controlled by genes located on the second chromosome).