FlyBase Allele Report: Dmel\Set8[20]

General Information

Symbol

Dmel\Set8²⁰

Species

D. melanogaster

Name

FlyBase ID

FBal0178384

Feature type

allele

Associated gene

Dmel\Set8

Associated Insertion(s)

Carried in Construct

Also Known As

PR-Set7²⁰

Key Links

Allele class

amorphic allele - molecular evidence

Mutagen

Nature of the Allele

Allele class

amorphic allele - molecular evidence

(Karachentsev et al., 2005)

Mutagen

Progenitor genotype

Set8^EY04668

(Karachentsev et al., 2005)

Cytology

Description

Imprecise excision of the insertion in pr-set7^EY04668, resulting in a deletion that removes the entire pr-set7 coding region.

(Karachentsev et al., 2005)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

Variant Molecular Consequences

Associated Sequence Data

DDBJ / EMBL / GenBank

DNA sequence

Protein sequence

UniProtKB/Swiss-Prot

UniProtKB/TrEMBL

Expression Data

Reporter Expression

Additional Information

Statement

Reference

Marker for

Reflects expression of

Reporter construct used in assay

Human Disease Associations

Disease Ontology (DO) Annotations

Models Based on Experimental Evidence ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 0 )

Disease

Interaction

References

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal body size | pupal stage | recessive

(Crain et al., 2022)

abnormal mitotic cell cycle

(Sakaguchi and Steward, 2007)

abnormal neuroanatomy

(Sakaguchi and Steward, 2007)

abnormal neuroanatomy (with Df(3R)red3l)

(Sakaguchi and Steward, 2007)

fertile, with Set8^ΔN

(Crain et al., 2022)

lethal - all die before end of larval stage (with Df(3R)red3l)

(Karachentsev et al., 2005)

lethal - all die before end of larval stage | recessive

(Karachentsev et al., 2005)

lethal - all die before end of pupal stage | recessive

(Crain et al., 2022)

melanotic mass phenotype | larval stage, with Set8^RGHL

(Crain et al., 2022)

non-enhancer of variegation, with P{hsp26-pt-T}39C-27

(Karachentsev et al., 2005)

non-enhancer of variegation, with P{hsp26-pt-T}39C-31

(Karachentsev et al., 2005)

non-enhancer of variegation, with P{hsp26-pt-T}39C-50

(Karachentsev et al., 2005)

non-enhancer of variegation, with P{hsp26-pt-T}39C-55

(Karachentsev et al., 2005)

non-enhancer of variegation, with P{hsp26-pt-T}39C-62

(Karachentsev et al., 2005)

non-suppressor of variegation, with P{hsp26-pt-T}39C-27

(Karachentsev et al., 2005)

non-suppressor of variegation, with P{hsp26-pt-T}39C-31

(Karachentsev et al., 2005)

non-suppressor of variegation, with P{hsp26-pt-T}39C-50

(Karachentsev et al., 2005)

non-suppressor of variegation, with P{hsp26-pt-T}39C-55

(Karachentsev et al., 2005)

non-suppressor of variegation, with P{hsp26-pt-T}39C-62

(Karachentsev et al., 2005)

partially lethal, with Set8^RG

(Crain et al., 2022)

partially lethal (with Set8¹)

(Crain et al., 2022)

some die during larval stage (with Df(3R)red3l)

(Karachentsev et al., 2005)

some die during larval stage | recessive

(Crain et al., 2022, Karachentsev et al., 2005)

suppressor of variegation | dominant, with P{hsp26-pt-T}118E-10

(Karachentsev et al., 2005)

suppressor of variegation | dominant, with P{hsp26-pt-T}Dyrk3^118E-15

(Karachentsev et al., 2005)

visible | adult stage, with Set8^RG

(Crain et al., 2022)

visible | adult stage, with Set8^ΔN

(Crain et al., 2022)

Phenotype Manifest In

Detailed Description

Statement

Reference

Homozygous pr-set7²⁰ and hemizygous pr-set7²⁰/Df(3R)red3l third instar larval brains are grossly disorganised.

Progression through mitosis is affected in pr-set7²⁰ neuroblasts. The mitotic index is significantly reduced to approximately 1.30% (compared to 2.16% in wild-type).

Homozygous pr-set7²⁰ and hemizygous pr-set7²⁰/Df(3R)red3l third instar larval neuroblasts have a fourfold higher frequency of cells in prophase compared to wild-type, and a correspondingly lower frequency of cells in the other mitotic phases. After a 1hour treatment with colchicine, the mitotic index in pr-set7²⁰ mutants increases 2.7-fold, indicating that the spindle assembly checkpoint is not disrupted. With colchicine, the ratio of prophase and prometaphase cells in the mutant is still high, indicating that the mutant cells are delayed in early mitotic stages.

Approximately 65% of homozygous pr-set7²⁰ mutant neuroblast prophase cells exhibit condensed DNA (or chromosomes), compared to wild-type, where 79% of prohase cells exhibit no chromosome condensation.

Many pr-set7²⁰ prometaphase figures exhibit irregular chromosomes. Although most metaphase figures look surprisingly normal in the mutant, a large proportion of pr-set7²⁰ anaphase and telophase figures contain lagging chromatids. Approximately 97.3% of mutant chromosomes display aberrant morphology. 17.9% of chromosomes are thinner and longer than normal chromosomes, and show vaguely defined sister chromatids, In 53.8%, the sister chromatids are not well defined enough to be apparent. Other chromosomes (25.6%) are entagled. After a 1 hour colchicine treatment and hypotonic shock, 60.9% of the mutant chromosomes are strikingly abnormal (compared to 7.3% in wild-type), being considerably longer and thinner than wild-type, and not exhibiting defined sister chromatids. 10.9% of mutant chromosomes are longer and thicker and lose the sister chromatid borders, compared to wild-type. Some mutant chromosomes seem to complete chromosome axis shortening but still have an obvious defect in defining sister chromatids.

The number of polyploid cells is not increased in pr-set7²⁰ mutants.

The level of apoptosis is not increased in pr-set7²⁰ mutants.

The S-phase index is significantly reduced in pr-set7²⁰ mutants.

(Sakaguchi and Steward, 2007)

Some homozygous third instar larvae have melanotic nodules in the hemocoel and cuticle along with melanisation of the trachea.

(Minakhina and Steward, 2006)

Most pr-set7²⁰ homozygotes or pr-set7²⁰/Df(3R)red3l hemizygotes die at the larval-to-pupal transition, with rare escapers surviving into early pupal stage. Leg and eye imaginal discs of mutant third instar larvae are about 10-20% smaller than wild-type discs and contain a significantly smaller number of cells. pr-set7¹/pr-set7²⁰ escapers generally die soon after eclosion and the eye is reduced in size and irregular in these animals.

(Karachentsev et al., 2005)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Set8²⁰ has lethal - all die before end of pupal stage | recessive phenotype, suppressible by Hsap\KMT5A^Set.PC/Hsap\KMT5A^Set.PC

(Crain et al., 2022)

Set8²⁰ has lethal - all die before end of pupal stage | recessive phenotype, suppressible by Set8::Hsap\KMT5A^{N-KMT5A::Set8-C}/Set8::Hsap\KMT5A^{N-KMT5A::Set8-C}

(Crain et al., 2022)

Set8²⁰ has lethal - all die before end of pupal stage | recessive phenotype, suppressible by Set8::Hsap\KMT5A^{N-Set8::KMT5A-C}/Set8::Hsap\KMT5A^{N-Set8::KMT5A-C}

(Crain et al., 2022)

Set8²⁰ has abnormal mitotic cell cycle phenotype, suppressible by mei-41^D3

(Sakaguchi and Steward, 2007)

Other

Statement

Reference

Hsap\KMT5A^Set.PC, Set8²⁰ has fertile phenotype

(Crain et al., 2022)

Hsap\KMT5A^Set.PC, Set8²⁰ has visible | adult stage phenotype

(Crain et al., 2022)

Set8::Hsap\KMT5A^{N-KMT5A::Set8-C}, Set8²⁰ has fertile phenotype

(Crain et al., 2022)

Set8::Hsap\KMT5A^{N-KMT5A::Set8-C}, Set8²⁰ has visible | adult stage phenotype

(Crain et al., 2022)

Set8::Hsap\KMT5A^{N-Set8::KMT5A-C}, Set8²⁰ has fertile phenotype

(Crain et al., 2022)

Phenotype Manifest In

Enhanced by

Statement

Reference

Set8²⁰ has chromosome phenotype, enhanceable by mei-41^D3

(Sakaguchi and Steward, 2007)

Set8²⁰ has condensed chromosome phenotype, enhanceable by mei-41^D3

(Sakaguchi and Steward, 2007)

Other

Statement

Reference

Hsap\KMT5A^Set.PC, Set8²⁰ has eye phenotype

(Crain et al., 2022)

Set8::Hsap\KMT5A^{N-KMT5A::Set8-C}, Set8²⁰ has eye phenotype

(Crain et al., 2022)

Additional Comments

Genetic Interactions

Statement

Reference

In mei-41^D3;pr-set7²⁰ double mutants, the mitotic index, significantly reduced in pr-set7²⁰ mutants, is rescued to be similar to that observed in wild-type and the homozygous mei-41^D3 mutant. The number of prophase cells is reduced compared with the number observed in pr-set7²⁰ homozygotes and becomes similar to wild-type and pr-set7²⁰ mutants. The ratio of anaphase/telophase cells with lagging chromatids is increased when the DNA damage checkpoint is abolished in the double homozygous mei-41^D3;pr-set7²⁰ mutant, indicating that the defect in chromomsome condensation is independent of checkpoint activation and that, in the absence of the checkpoint, the severity of the chromosome condensation defect is enhanced.