FlyBase Allele Report: Dmel\Su(var)2-10[1]

General Information

Symbol

Dmel\Su(var)2-10¹

Species

D. melanogaster

Name

FlyBase ID

FBal0123988

Feature type

allele

Associated gene

Dmel\Su(var)2-10

Associated Insertion(s)

Carried in Construct

Also Known As

Su(var)2-10⁰¹, dpias¹

Key Links

Genomic Maps

JBrowse

Allele class

Mutagen

ethyl methanesulfonate

Nature of the Allele

Allele class

Mutagen

ethyl methanesulfonate

(Westphal and Reuter, 2002)

Progenitor genotype

Cytology

Description

Nucleotide substitution: T?A. Amino acid replacement: L327M.

(Hari et al., 2001)

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

2R:9,118,289..9,118,289 [+]

Nucleotide change:

T9118289A

Reported nucleotide change:

T?A

Amino acid change:

Reported amino acid change:

L327M

(Hari et al., 2001)

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 hematologic cancer

CEA with Su(var)2-10²

(Kalamarz et al., 2012)

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

interphase & nuclear chromosome (with Su(var)2-10²)

(Hari et al., 2001)

polytene chromosome (with Su(var)2-10²)

(Hari et al., 2001)

Detailed Description

Statement

Reference

Su(var)2-10¹/Su(var)2-10² mutants exhibit significant genome instability in larval neuroblasts (in the absence of ionizing radiation), including aneuploidy, chromosome fusions and changes in the number of satellites.

(Ryu et al., 2015)

Heterozygotes show an increase in crossing over between kni and p^p. Heterozygotes show an increase in crossing over between se and kni, between kni and ss and between e and ro. Heterozygotes show a decrease in crossing over between y and N. Heterozygous females show reduced disjunction and/or chromosome loss in oogenesis compared to controls.

(Westphal and Reuter, 2002)

Causes dominant zygotic and maternal reductions in the transmission of Dp(1;f)J21A to offspring. A weak but reproducible decrease in transmission is seen when Su(var)2-10¹ is inherited from the father. When inherited from heterozygous mothers, zygotic and maternal defects combined to reduce Dp(1;f)J21A transmission levels to 7%. Su(var)2-10¹/Su(var)2-10² transheterozygous animals die as late larvae or early pupae, 3-15% of larvae have melanotic tumours. The penetrance of these tumours is temperature sensitive. The structure and function of chromosomes in Su(var)2-10¹/Su(var)2-10² mutants are grossly abnormal in both males and females. Two major types of chromosome defects are observed: abnormally condensed chromosomes in metaphase and aberrantly segregating chromosomes in anaphase. Anaphase segregation defects include chromosome fragmentation and bridging. Penetrance of the metaphase defects are temperature sensitive. Salivary glands in Su(var)2-10¹/Su(var)2-10² mutants are reduced in size, and the consistent banding pattern of normal polytene chromosomes is severely disrupted. They are generally disorganised and abnormally condensed. In Su(var)2-10¹/Su(var)2-10² third instar larvae, interphase chromosome organisation is altered. telomere-telomere and telomere-lamina associations are disrupted in mutant nuclei.