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Genetic analysis of two allelic temperature-sensitive mutants of Drosophila melanogaster both of which are zygotic and maternal-effect lethals.

After fertilization, the development of a zygote depends upon both gene products synthesized by its maternal parent and gene products synthesized by the zygote itself. To analyze genetically the relative contributions of these two sources of gene products, several laboratories have been isolating two classes of mutants of Drosophila melanogaster: maternal-effect lethals and zygotic lethals. This report concerns the analysis of two temperature-sensitive mutants, OX736hs and PC025hs, which were isolated as alleles of a small-disc mutant, l(3)1902. These alleles are not only zygotic lethals, but also maternal-effect lethals. They have temperature-sensitive periods during larval life and during oogenesis. Mutant larvae exposed continuously to restrictive temperature have small discs. One-or two-day exposures to the restrictive temperature administered during the third larval instar lead to a homeotic transformation of the midlegs and hindlegs to the pattern characteristic of the forelegs. Mutant females exposed to the restrictive temperature during oogenesis produce eggs that can develop until gastrulation, but do not hatch.--The existence of these mutants, and one that was recently described by another group, implies that there may be a class of genes, heretofore unrecognized, whose products are synthesized during oogenesis, are essential for embryogenesis and are also synthesized during larval stages within imaginal disc cells.

Animals

Correction of the maternal effect linked to the ac mutation, by injury of the egg, in the salamander Pleurodeles waltlii.

At the gastrula stage, deep irregular furrows appear on the animal hemisphere in embryos arising from ac/ac females and characterize a maternal effect (Beetschen, 1970). Disturbed morphogenetic movements (epiboly and invagination) frequently elicit exogastrulation or anomalies of later embryonic development. Pricking the animal hemisphere of the uncleaved egg with a micropipette prevents the occurrence of anomalies during gastrulation and neurulation in many embryos. Injection of normal oocyte nuclear sap or of normal egg cytoplasm into mutant female eggs does not improve that result. The partial correction of the maternal effect therefore appears to be consecutive to the injury of the cortical cytoplasm and/or the plasma membrane. Assuming that activation could be deficient, an electric shock was applied to freshly laid fertilized mutant eggs. It did not correct ectodermal anomalies but nevertheless seemed to increase the corrective effect of pricking when both treatments were applied.

Animals

Familial resemblance in casual blood pressure--a maternal effect?

1. The familial resemblance in causal blood pressure was studied in material derived from an ophthalmic population survey. The population consisted of 1078 individuals forming 373 families and 1410 pairs divided into groups with different relationships. In order to adjust for age, the difference between the logarithm of the systolic blood pressure and that of the value expected from a linear regression on age was used instead of the observed pressure. 2. There was no significant correlation between spouses. Children did not resemble their fathers at all. Sons and daughters were significantly correlated with their mothers. The resemblance between siblings was even greater and highly significant. The familial resemblance was not dependent on synchronized pressure readings or on a common household and was not related to the time available for cumulation of effects. 3. Together these findings formed a pattern strongly suggesting long-lasting maternal effects on the systolic blood pressure.

Blood Pressure

[Influence of the maternal effect on allogenic inhibition of hematopoietic stem cells].

Bone marrow cells (0,5-10(6)) of female mice of CBA or C57BL strains were injected intravenously to lethally irradiated CBA, C57BL/6, (femaleCBA X maleC57BL/6)F1 and (femaleC57BL/6 X maleCBA)F1 mice. Spleen of recipients as assayed for colony count on the 9th day after bone marrow transplantation by the method of Till and McCullouch. Stem cells of CBA mice demonstrated failure of allogenic inhibition in (CBA X C57BL/6)F1 hybrid mice and formed the same number of colonies as in the spleen of syngenic recipients. The level of allogenic inhibition of CBA stem cells transplanted to (C57BL/6 X X CBA)F1 hybrid mice was 50%. Bone marrow cells of C57BL/6 mice formed colonies in spleen of (CBA X C57BL/6)F1 mice at least in 20 times less than in syngenic combination. In the transplantation of bone marrow from C57BL/6 mice to (C57BL/6 X CBA)F1 hybrid mice the allogenic inhibition was less pronounced (77-85%) as compared with the transfer of cells to (CBA X C57BL/6)F1 hybrid mice (95%). The sex of a recipient did not influence the number of formed colonies. The different level of allogenic inhibition of parental stem cells can not be explained by the effect of linkage with sex as the female of reciprocal hybrid mice have identical structure of sex chromosomes (X(CBA)XC57BL/6). The data obtained indicate that the maternal effect affects allogenic inhibition of stem cells in parent--F1 system. It is possible that the maternal influence may be determined by cytoplasmic factors of inheritance which affect the expressivity of recessive genes Hh, controlling the inheritance of specific haematopoietic cell antigens.

Animals

Developmental genetics of the Drosophila egg. I. Identification of 59 sex-linked cistrons with maternal effects on embryonic development.

Sex-linked mutations to recessive female sterility were induced, sorted for egg-laying, mapped within broad regions and grouped by complementation tests into cistrons. The mutations have also been partially characterized for their temperature sensitivity and pleiotropic effects. Altogether 59 cistrons have been identified, including five ellelic with previously known loci: cin, fs(1)N, mk, sn, and r. All of the genes make maternal contributions to developing embryos. In some instances mutant defects are recognized in the egg envelopes; in the remainder the defects are presumably in the egg cytoplasm. For mutations in twenty-two genes, including cin, mk, and r alleles, the lethality of the maternal effect is reversed and the embryo is "rescued" by the action of a wild-type, paternal allele. The mutant strains are potentially important material for the study of developing egg envelopes and for furthering the analysis of causation in embryogenesis and its origins in oogenesis.

Alleles

The genetic control of maternal effects on mutations recovered from X-rayed mature Drosophila sperm.

Drosophila melanogaster males carrying a ring-X-chromosome were X-rayed and crossed to virgin females of 7 stocks, which had their second and third chromosomes systematically substituted. In the same experiment dominant lethals, sex-chromosome losses, and reciprocal translocations were recorded. Maternal effects on mutation fixation were observable as differences in the mutation frequencies observed with the different types of females. With the set of substitution stocks studied it was found that the maternal genotype strongly influences the frequencies of chromosome losses. The influences on classical chromosome-breakage phenomena, such as dominant lethals and translocations, however, are weak. The differences in the chromosome-loss frequencies may result either from different time intervals between insemination and the beginning of chromosome replication, and/or the efficiency of a repair system. One or more strong genetic factors responsible for such modifications could be located on the third chromosome. On the second chromosome, at best only weak factors are present.

Animals

Possible maternal effect on severity of neurofibromatosis.

62 patients with neurofibromatosis (from 54 families) whose signs or symptoms began in childhood were assessed as to the severity of disease and whether the individual was a new mutation or born to an affected father or mother. The morbidity of disease was much more severe in cases born to affected mothers than in those born to affected fathers or those who were new mutations. This finding suggests that there may be a maternal effect in neurofibromatosis similar to that which has been observed in myotonic dystrophy. This effect may be humorally mediated.

Adolescent

Analysis of a newly-isolated temperature sensitive maternal effect mutation of Drosophila melanogaster.

A mutation located near the tip of the X chromosome in Drosophila melanogaster has been isolated, and its developmental effects described. This mutation (1(1)ts-1 is temperature sensitive, and at permissive temperature (18 degrees C) develops normally. However, zygotes from females raised or aged at restrictive temperature (28 degrees C) never hatch, regardless of the embryonic genotype. Midgut formation is abnormal in lethal zygotes and dorsal closure is probably incomplete. Temperature shift experiments have shown that the zygotic lethality is governed by a temperature sensitive period in oocytes of stage seven or older. If viable 1(1)ts-1 embryos are shifted to restrictive temperatures, they develop as far as the pupal stage, but never eclose. The temperature sensitive period for pupal lethality includes the last 2.5 days of pupal development and does not involve a maternal effect.

Animals

X-ray induction of autosomal translocations in spermatozoa of Drosophila melanogaster and maternal effects of X.Y-chromosomes.

Wild-type ORK Drosophila melanogaster males were given an exposure of 3000 R X-radiation. Mature sperm were then sampled by mating to X.Y/X.Y, X.Y/X, or X/X females that carried markers on the second and third chromosomes for the detection of induced autosomal translocations. Two pairs of maternal stocks were used and heterozygous X.Y/X females were obtained by making both reciprocal crosses. The highest frequencies of induced translocations were obtained with X/X females. In one series these frequencies are higher than those obtained with either X.Y/X or X.Y/X.Y females. In the other series a uniform frequency of translocations was obtained with all types of female, except for one of the two types of heterozygous female, which gave lower frequencies. The experiments have provided data which show that the addition of Y-chromosomes to the maternal genome does not have a specific effect on the recovery of induced paternal autosomal translocations. Maternal Y-chromosomes increased the proportions of fertile F1 males, this effect being consistent in direction but varying in degree.

Animals

Maternal effects on fingertip dermatoglyphics.

Significantly larger variation between sibships within families of male MZ twins than between sibships within families of female MZ twins, indicative of maternal influences, was found for 10 of 41 dermatoglyphic fingertip variables. Of these, five were thumb-related with the effect primarily on the thumb radial and ridge count (larger of radial and ulnar count). These same variables were previously found to have unequal variances in MZ twins of known placental type, and the results indicate maternal influences in singletons as well as twins for these variables. Although the total ridge count (TRC), previously shown to differ in MZ twins of known placental type (paralleling the thumb radial and ridge counts) did not reach significance, the trend indicated that the observed thumb changes may be reflected in the TRC as well. Little finger pattern type and ulnar counts also showed less variability in families of female MZ twins, but the interpretation is complicated by the concomitant differences in mean squares within-sibships for these little finger variables.

Dermatoglyphics

Maternal effects of regular salicylate ingestion in pregnancy.

6.6% of all Australian patients attending an antenatal clinic were found to be taking salicylate preparations regularly, most commonly in powder form and almost always as self-medication. In this group of salicylate takers there was an increased incidence of anaemia, anti-partum and post-partum haemorrhage, prolonged gestation, complicated deliveries, and perinatal mortality compared with non-takers. These findings suggest that regular salicylate consumption has detrimental effects in pregnancy. Routine antenatal urinary screening for salicylate in pregnancy is recommended.

Adolescent

Maternal effects on embryonic and postembryonic growth in poultry.

1. It was found that the environment determined by the hen, namely protein, fat and moisture, had no effect on the growth of the embryo during the first 14 d of development. 2. The amount of protein available influenced growth during the last week of incubation but the amount of fat and water had no effect. 3. The regression of embryo on egg weight for the pooled data of large (mean 62 g) and small (53 g) eggs was 0.85 +/- 0.06 at day 20. 4. Embryos from large eggs were significantly heavier than those from small eggs on day 20: this difference persisted to the end of the experiment at 56 d of age when it had increased to 100 g. 5. A 1-g difference in egg weight was reflected in about a 10-g difference in chick weight at 56 d of age.

Animals