Mutation falls in the carboxy-terminal part of the protein, well downstream of the second Sxl RNA recognition motif, in a stretch of 7 proline residues interrupted by a single glutamine.
Amino acid replacement: P318S.
C7084638T
C?T
P279S | Sxl-PA; P287S | Sxl-PAB; P296S | Sxl-PAC; P309S | Sxl-PC; P319S | Sxl-PD; P279S | Sxl-PE; P311S | Sxl-PG; P311S | Sxl-PH; P311S | Sxl-PJ; P319S | Sxl-PL; P309S | Sxl-PN; P309S | Sxl-PO; P319S | Sxl-PP; P309S | Sxl-PR; P319S | Sxl-PT; P311S | Sxl-PW; P311S | Sxl-PX; P319S | Sxl-PY
P318S
A change from CCA (P) to TCA (S) in the second P after the Q in the span PPPPPQPP.
oocyte & spindle
All Sxlf2/Sxlf4 females can make eggs.
Recombination across the y-sn interval on the X chromosome of SxlM6,f3/Sxlf4 females is reduced compared to wild type but not eliminated. The rate of X chromosome nondisjunction is concomitantly elevated. Neither of these meiotic parameters is significantly affected by Wolbachia infection.
Sxlf24,M1/Sxlf4 females show high levels of X chromosome nondisjunction. Recombination across the y-sn interval on the X chromosome is only 0.5% that of controls, recombination across the 2nd chromosome is only 5% that of controls and recombination across the 3rd chromosome is only 7% that of controls.
In Sxlf4 homozygotes, female germ cell development is arrested at the cyst stage, leading to a substantial accumulation of cycst cells an escort cells. Despite this, the architecture of the tupregion of the gemrarium appears normal.
97% of ovaries of homozygous females that are not infected with Wolbachia have no eggs and the remaining 3% have 1-2 eggs. These oogenesis defects are partly rescued by Wolbachia infection; 20% of the ovaries of infected homozygous females have no eggs, 18% of ovaries have 1-2 eggs, 20% of ovaries have 3-9 eggs and 42% of ovaries have more than 10 eggs. Only a minority of the eggs laid by homozygous females infected with Wolbachia generate viable adult progeny; 42% of the embryos reach at least the germband elongation stage, but only 7% hatch into larvae. 30% of ovaries of Sxlf4/Sxlf1 females that are infected with Wolbachia have no eggs, 20% of ovaries have 1-2 eggs, 35% of ovaries have 3-9 eggs and 15% of ovaries have more than 10 eggs. 23% of ovaries of Sxlf5,fHa/Sxlf4 females that are infected with Wolbachia have no eggs, 28% of ovaries have 1-2 eggs, 37% of ovaries have 3-9 eggs and 12% of ovaries have more than 10 eggs.
All ovarioles of mutant ovaries are tumorous and have many small germ cells.
In homozygous ovaries, germ cells are largely arranged in small clusters of 2 or 4 cells connected by intercellular branches. Cystocytes appear to have undergone one or two rounds of cystocyte divisions. Sxlf4/Sxlf5; Su(Sxlfs)4646/+ females show severely reduced recombination and impaired segregation of homologous chromosomes. The reduction in recombination (which is also seen in Sxlf4/Sxlf4 ; Su(Sxlfs)4646/+ females) is caused by the lack of wild-type Sxl activity rather than the presence of Su(Sxlfs)4646 (recombination is restored to almost wild-type values in Sxlf4/+ ; Su(Sxlfs)4646/+ females). A high frequency of non-disjunction is also seen in Sxlf4/Sxlf4 ; Su(Sxlfs)4646/+ females. Sxlf4/Sxlfs3; Su(Sxlfs)X2X2/+ females show severely reduced recombination (no recombinant progeny are produced). The reduction in recombination is caused by the lack of wild-type Sxl activity rather than the presence of Su(Sxlfs)X2X2. A high frequency of non-disjunction is also seen in Sxlf4/Sxlfs3; Su(Sxlfs)X2X2/+ females.
Females with homozygous germ line clones do not lay any eggs. Clones contain tumorous cysts.
Tumorous ovaries.
Tumorous ovary phenotype.
Many more germ cells in ovarian tumors are positive for expression of male germline markers than in wild type testes, suggesting a relaxation of growth control, or accumulation of apical cells due to a developmental block.
Persistent cytoplasmic accumulation of Sxl protein in the germ line.
Female sterility cannot be rescued by SxlF1.hs construct.
Homozygous females have ovarian tumours.
Sxlf4/snfunspecified flies showed some somatic sexual transformation: male sex combs among normal female bristles. Sxlf4/snf1 flies were always female sterile as expression of Sxl+ in the germline is required for female fertility. At 29oC the ovarian tumours of Sxlf4/snf1 heterozygotes are snf-like (egg chambers have no nurse-like cells) and at 20oC they are Sxl-like (egg chambers have an excessive number of nurse cells).
Females produce abnormal egg chambers.
No eggs are laid, ovaries are rudimentary.
fully viable female-sterile
Sxlf4/Sxlf1 has female sterile phenotype, suppressible | partially by Oda[+]/Odak11803
Sxlf4 has female sterile phenotype, suppressible by Oda[+]/Odak11803
Sxlf4 has female sterile phenotype, suppressible by Su(Sxlfs)4646
Sxlf4 has female sterile phenotype, suppressible by Su(Sxlfs)X2X2
Sxlf4/Sxlf2, otu17 has female sterile | dominant phenotype
Su(fu)LP, Sxlf4 has female sterile phenotype
Su(Sxlfs)4646, Sxlf4 has female fertile phenotype
Su(Sxlfs)X2X2, Sxlf4 has female fertile phenotype
Sxlf4 has ovary phenotype, suppressible by Su(Sxlfs)4646
Su(fu)LP, Sxlf4 has egg chamber phenotype
otuSuWs dominantly suppresses the ability of Wolbachia to suppress Sxlf4 defects in oogenesis. This effect is strictly zygotic.
otu17 dominantly suppresses the ability of Wolbachia to suppress Sxlf4 defects in oogenesis.
Almost no Sxlf2/Sxlf4 females make eggs if they also carry otu17/+. Most egg chambers in these females are tumorous.
The oogenic defects seen in homozygous females are dominantly suppressed by Su(Sxlfs)4646; ovaries have mostly normal looking cysts that proceed through all stages of oogenesis without any morphological defects. Only rare cases of abnormal morphology, such as mislocalisation of the oocyte to the medial region of the egg chamber, are seen. Sxlf4/Sxlf4; Su(Sxlfs)4646/+ ovaries do not contain any nuclei that can be identified as pro-oocytes. No distinction can be made between the presumptive oocyte and the nurse cell nuclei, in contrast to wild-type. Late pachytene nuclei which are typical for stage 3 wild-type egg chambers are not seen. The earliest stage of meiotic differentiation that can be seen corresponds to wild-type stage 7. However, the appearance of oocyte nuclei is accompanied by defects in karyosomal organisation. Chromosome threads appear decondensed and dispersed or defectively packed in the karyosome. Occasionally, 2 or 3 loose bodies of chromatin are present instead of the single compact karyosome typical of wild-type oocytes. Sxlf4/Sxlfs3; Su(Sxlfs)X2X2/+ vitellogenic cysts show the same defects as Sxlf4/Sxlf4; Su(Sxlfs)4646/+ cysts. No chiasmata are present in stage 13-14 oocytes of either Sxlf4/Sxlf4 ; Su(Sxlfs)4646/+ or Sxlf4/Sxlfs3; Su(Sxlfs)X2X2/+ females. Consequently, chromosomes are usually seen in an anaphase-like arrangement in the first division spindle. In many instances, chromosomes are arranged in two or three spindles instead of one.
Small amount of male-specific Sxl splicing in ovaries and soma. Sxl product distribution is abnormal: transition to nuclear staining is not made. Sxl product distribution is normal in the soma.