Amino acid replacement: M151K.
The mh1 chromosome contains five nonsynonymous substitutions in mh (M151K, A368D, K372N, E381K, and K441T) compared to the reference genome sequence. The high evolutionary conservation of methionine 151 suggests that the M151K mutation is responsible for the mh1 phenotype, while the other changes could be polymorphisms.
T15474724A
M151K | mh-PA
M151K
Four other non-synonymous substitutions were found in this strain (A368D, K372N, E381K, and K441T) compared to the reference genome and may be polymorphisms. The M151K change in a highly conserved residue is thought to be responsible for the phenotype.
In mh1 haploid embryos, rare collisions of mitotic chromosomes during the syncytial blastoderm lead to nuclei of variable sizes and chromosome numbers different than controls. Nuclear density of mh1 embryos exhibit a greater variability than controls at midblastula transition. Majority of mh1 embryos undergo 14 nuclear cycles different than controls.
Embryos derived from homozygous females crossed with wild-type males never hatch. 22% of the embryos reach late embryogenesis and deposit a cuticle before dying. The cuticles have head defects, antero-dorsal holes, missing abdominal segments and an internalised telson. These late dying embryos are haploid gynogenetic embryos. Most eggs derived from homozygous females crossed with wild-type males contain a sperm tail. Female meiosis in the eggs produces a female pronucleus and three polar bodies, as in control eggs. The pronuclei are apposed in early fertilised eggs derived from homozygous females crossed with wild-type males, and the pronuclei enter the first division asynchronously, as occurs in wild-type fertilised eggs. The gonomeric division is always defective in eggs derived from homozygous females crossed with wild-type males. In anaphase of the first division, only one-half of the chromosomes (the maternal complement) migrate towards the spindle poles, whereas the other half (the paternal complement) lag behind on the metaphase plate. In telophase, a chromatin bridge of paternal origin is formed between the two daughter nuclei. At the end of the first division, the bridge breaks down and the late chromatin segregates at random between the two zygotic nuclei. This results in a high frequency of aneuploidy in interphase of nuclear cycle 2. Two major phenotypic classes are seen in the second embryonic mitosis. About half of the embryos show a similar phenotype to the first mitotic division, with the paternal chromosomes lagging behind. The other embryos appear aneuploid as they contain disorganised and fragmented chromosomes. The presence of lagging paternal chromatin is occasionally observed in the third nuclear cycle, but not in older embryos. The gonomeric spindle has a centrosome at each pole and appears to adapt well to the asynchrony of both sets of parental chromosomes during mitosis. The lagging paternal chromatin in telophase of the first mitotic division is surrounded by a nuclear lamina that is distinct from the lamina present around the maternal chromatin. At the end of the first division, daughter nuclei of maternal and paternal origin are often physically separated by their respective nuclear lamina.
Homozygous mh females are fertile at 18oC but at 25oC they are sterile; irrespective of the males used in cross, nuclei of developing embryos appear to be X-bearing and haploid. 183/200 eggs developed to blastoderm; gastrulation was abnormal; 22 embryos gave evidence of segmentation and muscular movement. Nuclei from such embryos injected into normal early embryos are capable of developing into patches of tissue, some of which produce structures of normal number and size and are presumably diploid, some of which produce increased numbers of smaller-than-normal structures and are presumably haploid and a few of which are mixed. Haploid tissue with female phenotype found in basitarsus, tergites and terminalia. Nuclear division cycles of haploid embryos 2.1 min. longer than wild type; such embryos undergo an extra nucleus division in the syncitial blastoderm, possibly to achieve a proper nuclear: cytoplasmic ratio prior to cellularization (Edgar, Kichle, and Schuberger, 1986). Haploid cell cultures established from 25oC embryos (Debec, 1978). Haploid cells and their diploidized derivatives lack centrioles (Debec, Szollosi and Sollosc, 1982). temperature-sensitive female-sterile
mh1 has lethal - all die during embryonic stage | maternal effect phenotype, non-enhanceable by GcnaKO
mh1 has female sterile phenotype, suppressible by Dp(1;3)DC300
mh1 has female sterile phenotype, suppressible by Dp(1;3)DC521
mh1 has increased mortality during development phenotype, suppressible by Dp(1;3)DC300
mh1 has lethal - all die during embryonic stage | maternal effect phenotype, non-suppressible by GcnaKO
mh1 is an enhancer of increased mortality during development phenotype of GcnaKO
Most of the mh1 embryos containing Dp(1;3)DC300 are diploid and some of them develop into adulthood without any discernible morphological abnormalities when compared to controls.
Fertilised eggs from double mutant Hira185b mh1 females contain a round condensed male pronucleus indistinguishable from that of Hira185b single mutants. The four pairs of maternal sister chromatids separate in anaphase of the first mitosis and bridges in telophase are not observed more frequently than controls. A spindle with centrosomes at both poles containing the haploid set of paternal chromosomes is seen in eggs derived from mh1 Klp3A3 females as in eggs derived from Klp3A3 females.
mh1 is rescued by Scer\GAL4VP16.nanos.UTR/mhUAS.mKO2
Df(1)shtdEPDelta/mh1 is rescued by mh+t5.8
Df(1)shtdEPDelta/mh1 is rescued by mhEGFP