scholarly journals Developmental genetics of loci at the base of the X chromosome of Drosophila melanogaster.

Genetics ◽  
1989 ◽  
Vol 121 (2) ◽  
pp. 313-331 ◽  
Author(s):  
N Perrimon ◽  
D Smouse ◽  
G L Miklos
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Developmental Genetics ◽  
Optic Lobes ◽  
Sterile Technique ◽  
Specific Subset ◽  
Dominant Female ◽  
Clone Analysis ◽  
Complementation Groups ◽  
Developmental Analysis

Abstract We have conducted a genetic and developmental analysis of the 26 contiguous genetic complementation groups within the 19D3-20F2 interval of the base of the X chromosome, a region of 34 polytene bands delimited by the maroon-like and suppressor of forked loci. Within this region there are four loci which cause visible phenotypes but which have little or no effect on zygotic viability (maroon-like, little fly, small optic lobes and sluggish). There are 22 loci which, when mutated, are zygotic lethals and three of these, legless/runt, folded gastrulation and 13E3, have severe effects on embryonic development. In addition, three visible phenotypes have been defined only by overlapping deficiencies (melanized-like, tumorous head, and varied outspread). We have analyzed the lethal phases and maternal requirement of 58 mutations at 22 of the zygotic lethal loci by means of germline clone analysis using the dominant female sterile technique. Additionally, all lethal complementation groups, as well as a specific subset of deficiencies, have been studied histologically for defects in the development of the central and peripheral embryonic nervous systems.

scholarly journals Genetic and developmental analysis of polytene section 17 of the X chromosome of Drosophila melanogaster.

Genetics ◽  
1992 ◽  
Vol 130 (3) ◽  
pp. 569-583
Author(s):  
D F Eberl ◽  
L A Perkins ◽  
M Engelstein ◽  
A J Hilliker ◽  
N Perrimon
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Developmentally Regulated ◽  
Present Evidence ◽  
Lethal Mutations ◽  
Sterile Technique ◽  
Dominant Female ◽  
Complementation Groups ◽  
Developmental Analysis ◽  
Chromosome Bands

Abstract Polytene section 17 of the X chromosome of Drosophila melanogaster, previously known to contain six putative lethal complementation groups important in oogenesis and embryogenesis, has here been further characterized genetically and developmentally. We constructed fcl+Y, a duplication of this region, which allowed us to conduct mutagenesis screens specific for the region and to perform complementation analyses (previously not possible). We recovered 67 new lethal mutations which defined 15 complementation groups within Df(1)N19 which deletes most of polytene section 17. The zygotic lethal phenotypes of these and preexisting mutations within polytene section 17 were examined, and their maternal requirements were analysed in homozygous germline clones using the dominant female sterile technique. We present evidence that an additional gene, which produces two developmentally regulated transcripts, is located in this region and is involved in embryogenesis, although no mutations in this gene were identified. In this interval of 37 to 43 polytene chromosome bands we have defined 17 genes, 12 (71%) of which are of significance to oogenesis or embryogenesis.

scholarly journals LETHALITY PATTERNS AND MORPHOLOGY OF SELECTED LETHAL AND SEMI-LETHAL MUTATIONS IN THE ZESTE-WHITE REGION OF DROSOPHILA MELANOGASTER

Genetics ◽  
1972 ◽  
Vol 72 (4) ◽  
pp. 615-638 ◽  
Author(s):  
M P Shannon ◽  
T C Kaufman ◽  
M W Shen ◽  
B H Judd
Keyword(s):  
Drosophila Melanogaster ◽  
Salivary Gland ◽  
X Chromosome ◽  
Pattern Analysis ◽  
Salivary Gland Chromosome ◽  
Developmental Genetics ◽  
Morphological Attributes ◽  
White Region ◽  
Lethal Mutations ◽  
Complementation Groups

ABSTRACT Aspects of the developmental genetics of lethal and semi-lethal mutants representing 13 complementation groups (cistrons) in the 3A-3C region of the X chromosome of Drosophila melanogaster are given. Each of these cistrons is associated with a particular chromomere in the salivary gland chromosome. Mutants within each cistron have similar lethality patterns and morphological attributes, and the characteristics of a given cistron are distinct with respect to other cistrons. These results provide additional evidence that only one function is associated with each chromomere.—The results of the lethality pattern analysis are also compared with previous studies of lethal mutants of Drosophila.

scholarly journals X-LINKED FEMALE-STERILE LOCI IN DROSOPHILA MELANOGASTER

Genetics ◽  
1986 ◽  
Vol 113 (3) ◽  
pp. 695-712
Author(s):  
Norbert Perrimon ◽  
Dawson Mohler ◽  
Lee Engstrom ◽  
A P Mahowald
Keyword(s):  
Drosophila Melanogaster ◽  
Embryonic Development ◽  
X Chromosome ◽  
Maternal Effect ◽  
The Other ◽  
Drosophila Genome ◽  
Relative Contribution ◽  
Clone Analysis ◽  
Single Allele ◽  
Lethal Genes

ABSTRACT We have examined the number of X-linked loci specifically required only during oogenesis. Complementation analyses among female-sterile (fs) mutations obtained in two mutagenesis screens—Gans' and Mohler's—indicate that any fs locus represented by two or more mutant alleles in Gans' collection are usually present in Mohler's collection. However, when a locus is represented by a single allele in one collection, it is generally not present in the other collection. We propose that this discrepancy is due to the fact that most "fs loci" represented by less than two mutant alleles are, in fact, vital (zygotic lethal) genes, and that the fs alleles are hypomorphic mutations of such genes. In support of this hypothesis we have identified lethal alleles at 12 of these "fs loci." The present analysis has possibly identified all maternal-effect lethal loci detectable by mutations on the X chromosome and has allowed us to reevaluate the number of "ovary-specific fs" loci in the Drosophila genome. Finally, germline clone analysis of a large number of fs mutations was performed in order to estimate the relative contribution of germline and somatic cell derivatives to oogenesis and to embryonic development. All the maternal-effect lethal loci tested are germline-dependent.

scholarly journals HYPOMORPHIC LETHAL MUTATIONS AND THEIR IMPLICATIONS FOR THE INTERPRETATION OF LETHAL COMPLEMENTATION STUDIES IN DROSOPHILA

Genetics ◽  
1983 ◽  
Vol 105 (4) ◽  
pp. 957-968
Author(s):  
David Nash ◽  
Frank C Janca
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Small Region ◽  
Essential Genes ◽  
Activity Levels ◽  
Lethal Mutations ◽  
Homozygous Mutant ◽  
Complementation Groups ◽  
Interallelic Complementation ◽  
Hypomorphic Alleles

ABSTRACT In a small region of the X chromosome of Drosophila melanogaster, we have found that a third of the mutations that appear to act as lethals in segmental haploids are viable in homozygous mutant individuals. These viable mutations fall into four complementation groups. The most reasonable explanation of these mutations is that they are a subset of functionally hypomorphic alleles of essential genes: hypomorphic mutations with activity levels above a threshold required for survival, but below twice that level, should behave in this manner. We refer to these mutations as "haplo-specific lethal mutations." In studies of autosomal lethals, haplo-specific lethal mutations can be included in lethal complementation tests without being identified as such. Accidental inclusion of disguised haplo-specific lethals in autosomal complementation tests will generate spurious examples of interallelic complementation.

Genetic instability in Drosophila melanogaster mediated by hobo transposable elements.

Genetics ◽  
1993 ◽  
Vol 133 (2) ◽  
pp. 315-334
Author(s):  
F Sheen ◽  
J K Lim ◽  
M J Simmons
Keyword(s):  
Drosophila Melanogaster ◽  
Transposable Elements ◽  
X Chromosome ◽  
Molecular Techniques ◽  
F Region ◽  
Hobo Element ◽  
Complementation Groups ◽  
Derivatives Of ◽  
Chromosome Bands

Abstract Eight independent recessive lethal mutations that occurred on derivatives of an unstable X chromosome (Uc) in Drosophila melanogaster were analyzed by a combination of genetic and molecular techniques. Seven of the mutations were localized to complementation groups in polytene chromosome bands 6E; 7A. In situ hybridization and genomic Southern analysis established that hobo transposable elements were associated with all seven of the mutations. Six mutations involved deletions of DNA, some of which were large enough to be seen cytologically, and in each case, a hobo element was inserted at the junction of the deletion's breakpoints. A seventh mutation was associated with a small inversion between 6F and 7A-B and a hobo element was inserted at one of its breakpoints. One of the mutant chromosomes had an active hobo-mediated instability, manifested by the recurrent production of mutations of the carmine (cm) locus in bands 6E5-6. This instability persisted for many generations in several sublines of an inbred stock. Two levels of instability, high and basal, were distinguished. Sublines with high instability had two hobo elements in the 6E-F region and produced cm mutations by deleting the segment between the two hobos; a single hobo element remained at the junction of the deletion breakpoints. Sublines with low instability had only one hobo element in the 6E-F region, but they also produced deletion mutations of cm. Both types of sublines also acquired hobo-mediated inversions on the X chromosome. Collectively, these results suggest that interactions between hobo elements are responsible for the instability of Uc. It is proposed that interactions between widely separated elements produce gross rearrangements that restructure the chromosome and that interactions between nearby elements cause regional instabilities manifested by the recurrence of specific mutations. These regional instabilities may arise when a copy of hobo transposes a short distance, creating a pair of hobos that can interact to produce small rearrangements.

scholarly journals DEVELOPMENTAL GENETICS OF THE 2E-F REGION OF THE DROSOPHILA X CHROMOSOME: A REGION RICH IN "DEVELOPMENTALLY IMPORTANT" GENES

Genetics ◽  
1984 ◽  
Vol 108 (3) ◽  
pp. 559-572
Author(s):  
Norbert Perrimon ◽  
Lee Engstrom ◽  
Anthony P Mahowald
Keyword(s):  
Cell Viability ◽  
Germ Cell ◽  
X Chromosome ◽  
Maternal Effect ◽  
Germ Line ◽  
Normal Activity ◽  
Developmental Genetics ◽  
Viability Analysis ◽  
Egg Chambers ◽  
Complementation Groups

ABSTRACT We have analyzed the 2E1-3A1 area of the X chromosome with special attention to loci related to embryogenesis. Published maps indicate that this chromosomal segment contains ten bands. Our genetic analysis has identified 11 complementation groups: one recessive visible (prune), two female steriles and eight lethals. One of the female sterile loci is fs(1)k10 for which homozygous females produce both egg chambers and embryos with a dorsalized morphology. The second female sterile is the paternally rescuable fs(1) pecanex in which unrescued embryos have a hypertrophic nervous system. Of the eight lethal complementation groups two are recessive embryonic lethals: hemizygous giant (gt) embryos possess segmental defects, and hemizygous crooked neck (crn) embryos exhibit a twisted phenotype. Analysis of these mutations in the female germ line indicates that gt does not show a maternal effect, whereas normal activity of crn is required for germ cell viability. Analysis of the maternal effect in germ line clones of the remaining six recessive lethal complementation groups indicates that four are required for germ cell viability and one produces ambiguous results for survival of the germ cells. The remaining, l(1) pole hole, is a recessive early pupal lethal in which embryos derived from germ line clones and lacking wild-type gene activity exhibit the "torso" or "pole hole" phenotype.

scholarly journals NONESSENTIAL SEQUENCES, GENES, AND THE POLYTENE CHROMOSOME BANDS OF DROSOPHILA MELANOGASTER

Genetics ◽  
1978 ◽  
Vol 88 (4) ◽  
pp. 723-742 ◽  
Author(s):  
Michael W Young ◽  
B H Judd
Keyword(s):  
Drosophila Melanogaster ◽  
Polytene Chromosome ◽  
X Chromosome ◽  
Observable Effect ◽  
Phenotypic Changes ◽  
Complementation Groups ◽  
One To One ◽  
Functional Units ◽  
Chromosomal Sequences ◽  
Chromosome Bands

ABSTRACT From earlier work, there appears to be an underlying one-to-one correspondence of polytene chromosome bands and complementation groups within a sizeable, continuous X-chromosome segment, 3A1-3C7 (Judd, Shen and Kaufman 1972; Lefevre and Green 1972). However, most of the data supporting this one-to-one relation of bands and genes were gathered from mutants that upset vital functional units, thus leading to lethality. Among this series of mutants, only four loci, zeste, white, roughest and verticals, have no known lethal alleles. If phenotypic changes less drastic than lethality result from the loss of other chromosomal segments, they probably would not have been recognized in the earlier studies.—We report here some chromosomal sequences localized in 3A, 3B, and 3C whose loss effects no lethal change in the development of the animal. A portion of the 3A3-3A4 region can be disrupted in a nonlethal fashion, yet this sequence does not seem to be a part of either the zeste locus or l(1)zw1, which are known to be located in these bands. Two more complementation groups have been discovered that have no lethal alleles and map to 3B4-3B6; a third falls within 3B1-2. The loss of a sequence in 3C2-3 is tolerated without any genetically observable effect. Between 3C7 and the boundary of 3D there is at least one more sequence that behaves in this manner.—The discovery of these units, which are not allelic to any of the loci previously known, makes it clear that division 3B contains more genes (i.e., complementation groups) than polytene chromosome bands, while portions of 3A and 3C seem to have no functional significance. Accordingly many polytene chromosome bands may be composites of several complementing functional units. This investigation also indicates that there are chromosomal segments that are seemingly dispensible and thus function in a manner that is difficult or impossible to define with available methods.

scholarly journals ISOLATION AND CHARACTERIZATION OF X-LINKED MUTANTS OF DROSOPHILA MELANOGASTER WHICH ARE SENSITIVE TO MUTAGENS

Genetics ◽  
1976 ◽  
Vol 84 (3) ◽  
pp. 485-506
Author(s):  
J B Boyd ◽  
M D Golino ◽  
T D Nguyen ◽  
M M Green
Keyword(s):  
Drosophila Melanogaster ◽  
Functional Groups ◽  
X Chromosome ◽  
Nitrogen Mustard ◽  
Methyl Methanesulfonate ◽  
Isolation And Characterization ◽  
Post Replication Repair ◽  
Complementation Groups ◽  
High Concentrations

ABSTRACT Thirteen X-linked mutants have been isolated in Drosophila melanogaster which render male and homozygous female larvae sensitive to the mutagen methyl methanesulfonate. Their characterization and preliminary assignment to functional groups is described. Four of these mutants are alleles of mei-41 (Baker and Carpenter 1972). Like previously isolated alleles of this locus, these mutants reduce fertility and increase loss and nondisjunction of the X-chromosome in homozygous females. The remaining mutants have been tentatively assigned to six functional groups (two mutants to the mus(1)101 locus, two to mus(1)102, two to mus(1)103, and one each to mus(1)104, mus(1)105, and mus(1)106). Several of the complementation groups can be distinguished on the basis of nondisjunction and cross sensitivity to mutagens. Females homozygous for the mei-41, mus(1)101 and mus(1)102 mutants exhibit elevated levels of nondisjunction. Mutants belonging to complementation groups mei-41, mus(1)101, and mus(1)104 are sensitive to nitrogen mustard (HN2) in addition to their MMS sensitivity. Among these mutants there is currently a direct correlation between sensitivity to HN2, sensitivity to 2-acetylaminofluorene and a deficiency in post-replication repair (Boyd and Setlow 1976). Only the mei-41 mutants are hypersensitive to UV radiation, although several of the mutants exhibit sensitivity to Y-rays. Semidominance is observed in female larvae of the mei-41, mus(1)104, and mus(1)103 mutants after exposure to high concentrations of MMS. The properties of the mutants generally conform to a pattern which has been established for related mutants in yeast. Additional properties of these mutants are summarized in Table 9.

scholarly journals DEVELOPMENTAL GENETICS OF THE 2C-D REGION OF THE DROSOPHILA X CHROMOSOME

Genetics ◽  
1985 ◽  
Vol 111 (1) ◽  
pp. 23-41 ◽  
Author(s):  
Norbert Perrimon ◽  
Lee Engstrom ◽  
Anthony P Mahowald
Keyword(s):  
X Chromosome ◽  
Group Analysis ◽  
Normal Activity ◽  
Complementation Group ◽  
Developmental Genetics ◽  
Additional Information ◽  
D Region ◽  
Complementation Groups ◽  
Homeotic Mutation ◽  
Mitotic Figures

ABSTRACT We have conducted a genetic and developmental analysis of genes within the 2C-D area of the X chromosome. Phenotypes of 33 mutations representing nine adjacent complementation groups including eight recessive lethals and one visible homeotic mutation (polyhomeotic) are described. Germline clonal analysis of the eight zygotic lethals has revealed three types of gene requirements: (1) normal activity at two pupal lethal loci (corkscrew and C204) and one larval lethal locus (ultraspiracle) is required for normal embryogenesis; (2) normal activity at three larval lethal loci (DF967, VE651 and Pgd) is required for normal oogenesis; and (3) activity at only one locus (EA82), a larval lethal, appears to have no maternal requirement. Ambiguous results were obtained for the GF316 lethal complementation group. Analysis of mitotic figures of the pupal lethals indicates that C204 disrupts an essential mitotic function. This result correlates with the preblastoderm arrest observed among embryos derived from germline clones of C204. Embryos derived from germline clones of corkscrew (csw) exhibit a "twisted" phenotype. The recessive lethal ultraspiracle (usp) disrupts the organization of the posterior tip of the larva both zygotically and maternally: second instar usp/Y larvae derived from heterozygous usp/+ mothers possess an extra set of spiracles, whereas usp/Y embryos derived from females possessing a germline clone (usp/usp) exhibit a localized ventral defect in the ninth or posterior eighth abdominal segment. Analysis of the phenotypes of deficiency-hemizygous embryos indicates the presence of an embryonic zygotic lethal locus, as yet unidentified, which produces central nervous system and ventral hypoderm degeneration. Additional information on the genetic organization of loci within the adjacent 2E area are also described. The implications of this analysis to our understanding of the maternal of zygotic lethal loci in development are discussed.

scholarly journals Characterization of X-linked recessive lethal mutations affecting embryonic morphogenesis in Drosophila melanogaster.

Genetics ◽  
1988 ◽  
Vol 118 (1) ◽  
pp. 109-120
Author(s):  
D F Eberl ◽  
A J Hilliker
Keyword(s):  
Drosophila Melanogaster ◽  
X Chromosome ◽  
Large Scale ◽  
Lethal Mutations ◽  
Internal Structures ◽  
Complementation Groups ◽  
Embryonic Morphogenesis ◽  
Mutant Phenotypes ◽  
Cuticular Structures

Abstract This study attempted to assay the zygotic contribution of X chromosome genes to the genetic control of embryonic morphogenesis in Drosophila melanogaster. A systematic screen for X-linked genes which affect the morphology of the embryo was undertaken, employing the phenotype of whole mount embryos as the major screening criterion. Of 800 EMS-induced lethal mutations analyzed, only 14% were embryonic lethal, and of these only a minority affected embryonic morphogenesis. By recombination and complementation analyses, the mutations that affected embryonic morphogenesis were sequestered into 26 complementation groups. Fourteen of the loci correspond to genes previously identified in a large-scale screen in which fixed cuticles were examined, and 12 new loci have been identified. Most of the mutations which disrupt embryonic morphology had specific and uniform mutant phenotypes. Mutations were recovered which disrupt major morphogenetic events such as gastrulation, germ band retraction and head involution. No mutations were found which arrest the embryos prior to blastoderm formation. However, a novel class was found, one comprised of mutations which interfere with the development of internal structures but not cuticular structures. Nevertheless, saturation of the X chromosome for genes important for embryonic morphogenesis is probably incomplete.

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