FlyBase Allele Report: Dmel\PolG2[2]

General Information

Symbol

Dmel\PolG2²

Species

D. melanogaster

Name

FlyBase ID

FBal0008426

Feature type

allele

Associated gene

Dmel\PolG2

Associated Insertion(s)

Carried in Construct

Also Known As

l(2)34De², pol γ-β², l(2)br16^SF16

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

Nature of the Allele

Allele class

Mutagen

spontaneous

(Iyengar et al., 2002)

ethyl methanesulfonate

(Ashburner et al., 1999.10.12)

Progenitor genotype

Cytology

Polytene chromosomes normal.

(Gubb et al., 1984)

Description

A 74bp insertion after nucleotide 350 (in exon1) of the DNApol-γ35 ORF introduces a premature stop codon.

(Iyengar et al., 2002)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

insertion

2L:13,832,278..13,832,279 [-]

Comment:

A 74bp insertion between the indicated bases within codon T117 introduces a frameshift and a premature stop codon.

(Iyengar et al., 2002)

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 ( 1 )

Disease

Evidence

References

model of autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4

CEA

(Iyengar et al., 2002)

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 locomotor behavior (with Df(2L)b80c1)

(Iyengar et al., 2002)

abnormal neuroanatomy (with Df(2L)b80c1)

(Iyengar et al., 2002)

abnormal neuroanatomy (with PolG2¹)

(Iyengar et al., 2002)

abnormal neuroanatomy | third instar larval stage (with PolG2¹)

(Baqri et al., 2009)

abnormal size | larval stage (with PolG2¹)

(Iyengar et al., 2002)

decreased occurrence of cell division | larval stage (with PolG2¹)

(Iyengar et al., 2002)

lethal | recessive

(Woodruff and Ashburner, 1979)

lethal - all die before end of pupal stage

(Iyengar et al., 2002)

lethal - all die before end of pupal stage (with Df(2L)b80c1)

(Iyengar et al., 2002)

lethal - all die before end of pupal stage (with PolG2¹)

(Iyengar et al., 2002)

some die during pupal stage

(Iyengar et al., 2002)

some die during pupal stage (with Df(2L)b80c1)

(Iyengar et al., 2002)

some die during pupal stage (with PolG2¹)

(Iyengar et al., 2002)

Phenotype Manifest In

embryonic/larval central nervous system (with PolG2¹)

(Iyengar et al., 2002)

embryonic/larval motor neuron | third instar larval stage (with PolG2¹)

(Baqri et al., 2009)

larval segmental nerve | third instar larval stage (with PolG2¹)

(Baqri et al., 2009)

mitochondrion (with Df(2L)b80c1)

(Iyengar et al., 2002)

mitochondrion (with PolG2¹)

(Iyengar et al., 2002)

mitochondrion | third instar larval stage (with PolG2¹)

(Baqri et al., 2009)

ventral oblique muscle cell | third instar larval stage (with PolG2¹)

(Baqri et al., 2009)

Detailed Description

Statement

Reference

Mitochondria in abdominal muscles 6/7 of DNApol-γ35¹/DNApol-γ35² mutant third instar larvae display defective arrangement of mitochondria, and lower mtDNA content, but no decrease in mitochondrial density, and there is no qualitative difference in mitochondrial morphology when examined via electron microscopy, as compared to controls. Third instar larvae do not display a significant difference in mitochondrial density in the proximal or distal regions of the segmental nerve, but do show a small but significant decrease in mitochondrial density in the medial portion of the segmental nerve. Mitochondrial flux in third instar DNApol-γ35¹/DNApol-γ35² motor neurons is significantly increased, with no difference in retrograde velocity, but a significant decrease in anterograde velocity, as compared to controls.

There is no significant difference in synaptic vesicle precursor flux or velocity in DNApol-γ35¹/DNApol-γ35² or DNApol-γ35¹/+ third instar motor neurons, as compared to controls.

(Baqri et al., 2009)

Severe mtDNA depletion is seen in DNApol-γ35²/Df(2L)b80c1 and DNApol-γ35¹/DNApol-γ35² animals. The reticular pattern of mitochondria surrounding the nuclei of larval brain cells is disrupted in DNApol-γ35²/Df(2L)b80c1 and DNApol-γ35¹/DNApol-γ35² animals: the mitochondrial reticulum appears fragmented, as evidenced by the increased presence of vesicular profiles. The CNS of DNApol-γ35²/Df(2L)b80c1 and DNApol-γ35¹/DNApol-γ35² larvae is smaller than that of wild-type controls. These larvae have a reduction in cell proliferation (measured by BrdU incorporation) in the CNS. Both the outer and inner proliferation centers in the optic lobes are equally affected. DNApol-γ35²/Df(2L)b80c1 animals have significantly impaired larval locomotion.