Publications

1986
Perrimon N, Mahowald AP. l(1)hopscotch, A larval-pupal zygotic lethal with a specific maternal effect on segmentation in Drosophila. Dev Biol. 1986;118 (1) :28-41. Abstract

The maternal and zygotic effect phenotypes of mutations at the l(1)hopscotch (l(1)hop) locus are described. l(1)hop is located in 10B6-8 on the salivary gland chromosome map and 17 alleles have been characterized. A complex complementation pattern is observed among the 17 alleles. The lethal phase of null alleles of l(1)hop occurs at the larval-pupal interface associated with a small disc phenotype. Embryos produced from homozygous l(1)hop germline clones show segment specific defects. The extent of these defects depends upon both the strength of the allele and the paternal contribution. In the most extreme case embryos exhibit defects associated with five segments T2, T3, A4, A5, and A8. In the less extreme phenotype defects are only associated with A5. Thus, activity of l(1)hop+ is required both for the maintenance and continued cell division of diploid imaginal precursors and for the establishment of the full array of segments.

1986_Dev Bio_Perrimon.pdf
Perrimon N, Mohler D, Engstrom L, Mahowald AP. X-linked female-sterile loci in Drosophila melanogaster. Genetics. 1986;113 (3) :695-712. 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.

1986_Genetics_Perrimon.pdf
1985
Konrad KD, Engstrom L, Perrimon N, Mahowald AP. Genetic analysis of oogenesis and the role of maternal gene expression in early development. In: Brower L. Developmental Biology: A Comprehensive Synthesis. Oogenesis; 1985. p. 577-617.
Mortin MA, Perrimon N, Bonner JJ. Clonal analysis of two mutations in the large subunit of RNA polymerase II of Drosophila. Mol Gen Genet. 1985;199 (3) :421-6. Abstract

Two mutations in the gene, RpII215, were analyzed to determine their effects on cell differentiation and proliferation. The mutations differ in that one, RpII215ts (ts), only displays a conditional recessive lethality, while the other, RpII215Ubl (Ubl), is a recessive lethal mutation that also displays a dominant mutant phenotype similar to that caused by the mutation Ultrabithorax (Ubx). Ubl causes a partial transformation of the haltere into a wing; however, this transformation is more complete in flies carrying both Ubl and Ubx. The present study shows that patches of Ubl/-tissue in gynandromorphs are morphologically normal. cuticle that has lost the wild-type copy of the RpII215 locus fails to show a haltere to wing transformation, nor does it show the synergistic enhancement of Ubx by Ubl. We conclude that an interaction between the two RpII215 alleles, Ubl and RpII215+, is responsible for the mutant phenotype. Gynandromorphs carrying the ts allele, when raised at permissive temperature, display larger patches of ts/-cuticle than expected, possibly indicating that the proliferation of ts/+ cells is reduced. This might result from an antagonistic interaction between different RpII215 alleles. Classical negative complementation does not appear to be the cause of the antagonistic interactions described above, as only one RpII215 subunit is thought to be present in an active multimeric polymerase enzyme. We have therefore coined the term 'negative heterosis' to describe the aforementioned interactions. We also observed that the effects of mutationally altered RNA polymerase II on somatic cells are different from its effects on germ cells.(ABSTRACT TRUNCATED AT 250 WORDS)

1985_MolGenGenet_Mortin.pdf
Perrimon N, Engstrom L, Mahowald AP. Developmental genetics of the 2C-D region of the Drosophila X chromosome. Genetics. 1985;111 (1) :23-41. 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: normal activity at two pupal lethal loci (corkscrew and C204) and one larval lethal locus (ultraspiracle) is required for normal embryogenesis; normal activity at three larval lethal loci (DF967, VE651 and Pgd) is required for normal oogenesis; and 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 larval 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.(ABSTRACT TRUNCATED AT 250 WORDS)

1985_Genetics_Perrimon.pdf
Perrimon N, Engstrom L, Mahowald AP. A pupal lethal mutation with a paternally influenced maternal effect on embryonic development in Drosophila melanogaster. Dev Biol. 1985;110 (2) :480-91. Abstract

The maternal effect and zygotic phenotype of l(1)pole hole (l(1)ph) is described. l(1)ph is a zygotic lethal mutation which affects cell division of adult precursor cells in Drosophila larvae. The locus is located in 2F6 on the salivary gland chromosome map and four alleles have been characterized. Germ-line clonal analysis of amorphic alleles indicates that l(1)ph has a maternal effect lethal phenotype. Two lethal phenotypes are observed among embryos derived from female germ-line clones homozygous for amorphic alleles dependent upon the zygotic activity of l(1)ph+ introduced via the sperm. Class 1: If no wild-type dose of the gene is introduced, embryos form abnormal blastoderms in which nuclear migration and cell formation is disrupted leading to an ill-defined cuticular pattern. Class 2: If a wild-type copy of the gene is introduced, blastoderm cells do not form beneath the pole cells (the pole hole phenotype); subsequently such embryos are missing cuticular structures posterior to the seventh abdominal segment (the torso phenotype). When the zygotic activity l(1)ph+ is modulated using position effect variegation a new phenotype is observed among class 2 embryos in which torso embryos are twisted along their longitudinal axis.

1985_Dev Bio_Perrimon.pdf
1984
Mahowald AP, Konrad KD, Engstrom L, Perrimon N. Genetic approach to early development. In: Molecular Biology of Development. New York, NY: Alan R. Liss, Inc; 1984. p. 185-197.
Perrimon N. Clonal Analysis of Dominant Female-Sterile, Germline-Dependent Mutations in Drosophila Melanogaster. Genetics. 1984;108 (4) :927-39. Abstract

Three allelic, dominant and germline-dependent female-sterile mutations (ovo(D) mutations) can be classified according to the severity of the ovarian abnormalities that they produce. The size and frequency of +/+ germline clones, induced in ovo(D)/+ females, were compared with K10/K10 germline clones induced in K10/+ control females. The frequency of germline clones induced by irradiation of first instar larvae is similar for the three dominant alleles and K10 ; however, the clone size increased with the strength of the allele tested, compared with K10 clones. When clones were induced later in development, the clone frequencies decreased with the strength of the alleles. These results are discussed in the context of the antimorphic nature of these mutations and the characteristics of germline development. The use of these alleles as tools in the genetic analysis of development is discussed.

1984_Genetics_Perrimon_Germline.pdf
Perrimon N, Engstrom L, Mahowald AP. Developmental genetics of the 2E-F region of the Drosophila X chromosome: a region rich in "developmentally important" genes. Genetics. 1984;108 (3) :559-72. 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.

1984_Genetics_Perrimon_2E-F.pdf
White RAH, Perrimon N, Gehring WJ. Differentiation markers in the Drosophila ovary. J Embryol Exp Morphol. 1984;84 :275-86. Abstract

A library of monoclonal antibodies, raised against imaginal discs of Drosophila melanogaster, was screened for binding to differentiation antigens in the adult ovary by immunofluorescence. Several lectins were similarly assayed. Two antibodies, DOV 1 and DOV 2, and wheat germ agglutinin exhibited binding which was restricted to particular stages of ovarian cell differentiation. DOV 2 also showed a marked preferential binding to the cell surface of germ line cells in the ovary. A differentiation of the portion of the tunica propria covering the anterior part of the germarium was revealed by the monoclonal antibody DOV 3. Another monoclonal antibody, DOV 4, identified a molecular specialization of the chorion at the tip of the micropyle. These markers should provide tools for the molecular analysis of oogenesis.

1984_JEEM_White.pdf
Perrimon N, Engstrom L, Mahowald AP. The effects of zygotic lethal mutations on female germ-line functions in Drosophila. Dev Biol. 1984;105 (2) :404-14. Abstract

Many genetic loci that result in lethality when mutated may also have an essential role in oogenesis. The maternal effects of EMS-induced zygotic lethal mutations at 48 loci were examined using the dominant female-sterile technique. Three categories of effects were found. In the first group (13 out of 48), no maternal effect was detected. The second set (20 out of 48) exhibited maternal effects on oogenesis, embryogenesis, or both. In 13 of this last group, only a few eggs were produced before a progressive deterioration of development occurred. It is suggested that perdurance of the wild-type gene product could produce this result. The third group (15 out of 48) produced cell lethality in germ-line clones, an effect that may be related to their role in indispensable cell functions. Three loci were found which, in germ-line clones, produced embryonic phenotypes that resemble maternal effect mutations. The implications of this study for the genetic analysis of early development are discussed.

1984_Dev Bio_Perrimon.pdf
1983
Perrimon N, Gans M. Clonal analysis of the tissue specificity of recessive female-sterile mutations of Drosophila melanogaster using a dominant female-sterile mutation Fs(1)K1237. Dev Biol. 1983;100 (2) :365-73. Abstract

Using the newly isolated, germ line-dependent dominant female-sterile mutation Fs(1)K1237, we have characterized the germ line or somatic line dependence of 25 X-linked recessive female-sterile mutations. Since Fs(1)K1237/+ females fail to lay eggs, only germ line cells which lose Fs(1)K1237 as a result of X-ray-induced mitotic recombination are capable of producing eggs. Such recombination events will render genes on the homologous chromosome homozygous. If this chromosome carries a recessive female-sterile mutation, the fertility will be restored only if the altered function is not required in the germ line. Using this test, we have classified 25 recessive female-sterile mutations: 12 affect germ line function, 12 affect somatic line function, and one gave an ambiguous result for which an explanation is proposed. For a few of the somatic line-dependent mutants, we found that some eggs derived from germ line clones showed the same phenotype as eggs laid by females homozygous for the recessive female-sterile mutation. These results are discussed in terms of a coincident production of clones in the follicle cells.

1983_Dev Bio_Perrimon.pdf

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