FlyBase Allele Report: Dmel\PCNA[B1]

General Information

Symbol

Dmel\PCNA^B1

Species

D. melanogaster

Name

FlyBase ID

FBal0012631

Feature type

allele

Associated gene

Dmel\PCNA

Associated Insertion(s)

Carried in Construct

Also Known As

mus209^B1

Key Links

Genomic Maps

JBrowse

Allele class

heat sensitive hypomorphic allele - genetic evidence

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

heat sensitive hypomorphic allele - genetic evidence

(Henderson et al., 1994)

Mutagen

ethyl methanesulfonate

Progenitor genotype

Cytology

Description

Amino acid replacement: P140L. The identified nucleotide substitutions are probably strain-specific polymorphisms. Nucleotide substitution: G52A. Nucleotide substitution: A216T. Nucleotide substitution: T253C. Nucleotide substitution: C317T. Nucleotide substitution: T329C. Nucleotide substitution: A542G.

(Henderson et al., 2000)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:20,262,243..20,262,243 [-]

Nucleotide change:

C20262243T

Amino acid change:

P140L | PCNA-PA; P140L | PCNA-PB

Reported amino acid change:

P140L

Comment:

Site of nucleotide substitution in mutant inferred by FlyBase based on reported amino acid change. Other polymorphisms present in strain but are unlikely to be cause of mutant phenotype.

(Henderson et al., 2000)

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

Phenotype Manifest In

egg chamber | oogenesis

(Henderson et al., 2000)

follicle cell

(Henderson et al., 2000)

follicle cell | oogenesis (with PCNA²⁷³⁵)

(Henderson et al., 2000)

nucleus | embryonic stage 4

(Henderson et al., 2000)

nurse cell | ectopic

(Henderson et al., 2000)

nurse cell | oogenesis (with PCNA²⁷³⁵)

(Henderson et al., 2000)

ovariole

(Henderson et al., 2000)

ovary

(Henderson et al., 2000)

prothoracic leg

(Yamamoto et al., 1997)

sex comb | ectopic

(Yamamoto et al., 1997)

Detailed Description

Statement

Reference

Exposure of PCNA^B1 mutant larvae to DDVP for 48 hours results in a significant increase in the migration of DNA in midgut cells at 1.5 and 15ng/ml concentrations of DDVP as compared to controls.

(Mishra et al., 2014)

mus209^B1/mus209²⁷³⁵ mutants have a similar frequency of single-strand annealing repair (SSA) compared to controls in a P{wIw.FRT} hemizygous assay to study DNA double-stranded break repair when assayed at 32^oC or 38^oC.

(Wei and Rong, 2007)

Homozygotes are viable at 22^oC, but die as pupae at 29^oC. Homozygous females (raised at the permissive temperature) do not produce eggs. Homozygous ovaries are small and poorly developed. They are partitioned into ovarioles, but these are rudimentary and devoid of late stage egg chambers, containing only stem cells and early stage egg chambers. Germline clonal analysis demonstrates that the defective mus209 protein in mus209^B1 very poorly sustains development of the female germ line. Mosaic females containing homozygous germ line clones produce only a small number of viable progeny. mus209^B1/mus209²⁷³⁵ females are partially fertile. Ovaries from these females develop further than either of their homozygous mutant counterparts, but still show developmental defects. These can include defects in follicle cell proliferation or migration and egg chambers that contain approximately double the normal number of nurse cells. Some egg chambers appear normal. The syncytial embryos derived from these females show a range of defects. 10-20% appear wild type. Others show varying degrees of abnormality in distribution of the nuclei. Embryos with highly irregular nuclei often appeared to be arrested in cell cycle progression, while in others aberrant nuclear division leads to nuclear "fallout" from the cortex. The overall level of recombination on chromosome 2 is reduced in mus209^B1/mus209²⁷³⁵ females compared to wild type, but only marginally so. The proportion of distal exchange events is reduced, while the proportion of centromere-proximal exchanges is actually increased.

(Henderson et al., 2000)

Mutant pharate adult males show a crm-like phenotype, with an ectopic sex comb tooth being present in the second tarsal segment of prothoracic legs in approximately one third of mutant males.

(Yamamoto et al., 1997)

Newly hatched larvae at 22^oC are very sensitive to killing by methyl methanesulfonate and ionising radiation. Heterozygotes with mus209²⁷³⁵ are lethal at 29^oC.

(Henderson et al., 1994)

Larval survival hypersensitive to exposure to methyl methanesulfonate and gamma rays, but not to N-acetyl-2-aminofluorene, benzo^apyrene, or nitrogen mustard.

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Phenotype Manifest In

Other

Statement

Reference

PCNA^B1, crm⁷ has mesothoracic leg phenotype

(Yamamoto et al., 1997)

PCNA^B1, crm⁷ has metathoracic leg phenotype

(Yamamoto et al., 1997)

PCNA^B1, crm⁷ has sex comb phenotype

(Yamamoto et al., 1997)

PCNA^B1, crm⁷ has prothoracic leg phenotype

(Yamamoto et al., 1997)

Additional Comments

Genetic Interactions

Statement

Reference

Flies transheterozygous for crm⁷ and mus209^B1 show a strong enhancement of both the proximal to distal and posterior to anterior crm mutant phenotypes. Complete sex combs are present on the first tarsal segments of all legs.

(Yamamoto et al., 1997)

Xenogenetic Interactions

Statement

Reference

Complementation and Rescue Data

Complements

PCNA^D-1368

(Henderson et al., 1994)

Rescued by

PCNA^B1 is rescued by PCNA^+t7

(Henderson et al., 1994)

PCNA^B1 is rescued by PCNA^+t5

(Henderson et al., 1994)

Comments

mus209^B1 and mus209²⁷³⁵ partially complement each other for the female sterility and DNA double strand break repair defect seen in each homozygote.

(Henderson et al., 2000)

mus209^B1 fully complements mus209^D-1368 and mus209²⁷³⁵. Homozygous mutant phenotype can be rescued by constructs mus209^+t5 and mus209^+t7.

(Henderson et al., 1994)

Images (0)

Mutant

Wild-type

Stocks (0)

Notes on Origin

Discoverer

Comments

mus209^B1 flies cannot repair site-specific DNA double-strand breaks at the sn^w locus induced by P\T^Δ2-3. This has dominant lethal effects.

(Henderson and Glover, 1998)

External Crossreferences and Linkouts ( 0 )

Synonyms and Secondary IDs (2)

Reported As

Symbol Synonym

PCNA^B1

mus209^B1

(Mishra et al., 2014, Wei and Rong, 2007)

Name Synonyms

Secondary FlyBase IDs

References (7)

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