Point mutation.
Amino acid replacement: R339S.
C20669184A
R339S | exu-PA; R339S | exu-PB; R339S | exu-PC; R339S | exu-PD
R339S
Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change.
Does not prevent the posterior localization of G-iα65A protein.
Low levels of bcd protein are present evenly throughout the embryo. gt expression is reduced in the anterior and posterior domains.
Male are fertile at 25oC with only a partial reduction at 18oC.
Interacts with RpII140wimp maternal effect.
Neither hb or delocalized bcd transcripts are translated in the posterior as a result of nos activity: larvae have full complement of abdominal segments. If the embryos also contain bcdΔ fewer abdominal segments are formed, if they contain bcdhb1+hb2 five or six abdominal segments form.
Male fertile at 25oC, fertility reduced by 50% at 18oC.
Eggs derived from homozygous females cellularise normally but become abnormal at gastrulation; the cephalic furrow is shifted forward and the anterior most cells form an inverted posterior end, forming a posterior midgut, proctodeal region and often Malpighian tubules. Anterior head structures of the cuticle are missing.
Embryos laid by exu1 homozygous mothers have a uniform distribution of bcd RNA throughout the egg cytoplasm. A gradient becomes more pronounced as development proceeds due to posterior degradation of the RNA.
The thoracic and segmented head anlagen is enlarged while the posterior pattern is compressed. Low levels of bcd protein are distributed in a shallow gradient throughout the embryo. vas1, exu1 double mutant embryos exhibit a low and even level of bcd mRNA and protein along the anteroposterior axis: they have duplicated head and thorax at the posterior.
Embryos derived from homozygous females show a deletion of anterior head structures, but do not show defects in the thorax or anterior abdomen. The anterior structures that remain appear enlarged rather than reduced in size; when only the labrum is eliminated (29oC) the antennal sense organ is normal in size, when both labrum and antenna are eliminated (18oC) the maxillary structures are often increased in size. The thoracic region is expanded in size and there are an increased u of denticles in the prothorax. Occasional abdominal defects are restricted to the posterior abdominal region. More frequently, segmentation is normal, but the overall size of the hind end is reduced. The anterior phenotype is enhanced at 18oC (compared to 29oC). The temperature-critical period is during oogenesis. Embryos derived from bcd6/bcd7 females show some development of at least thoracic and frequently head structures when injected at the anterior tip with cytoplasm taken from the anterior tip of wild-type embryos. In contrast, cytoplasm taken from the anterior tip of embryos derived from exu1/exu2 females shows barely detectable rescuing activity when injected into the anterior tip of embryos derived from bcd6/bcd7 females. The phenotype of embryos derived from exu1/exu2 females is more or less unmodified if cytoplasm is removed from the anterior tip of the embryo. exu1 does not alter the phenotype of embryos derived from bcd6/bcd7 females. However, in combination with bcd10/bcd9 further thoracic segments are deleted, leaving a somewhat enlarged but otherwise normally segmented abdomen. Mouth hooks or only prothoraces may be formed at both ends of the embryo in embryos derived from exu1/exu1; osk6/osk6 embryos.
Homozygous females produce embryos which have deletions of the most anterior head structures (labrum and chitinous mouth plates).
Analysis of germ-line clones indicates that the mutation is germ-line autonomous (Schupbach and Wieschaus, 1986). Causes shift in blastoderm fate map as indicated by ftz expression; thoracic stripes broadened and shifted anteriorly; abdominal stripes narrowed and compressed posteriorly (Mlodzik et al.). Eggs produced by exu mothers appear to have a more uniform distribution of bcd+ product, i.e., less concentration anteriorly (Fronhofer and Nusslein-Volhard, 1987).
exu1/exu[+] is an enhancer of dorsal appendage | maternal effect phenotype of BicC4
Germline mosaic analysis shows that exu is required in the germline.
The amino acid sequence of exu1 indicates that Arg-339 is important for exu function in the female germline.