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PMID:11731796

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Citation

Colmenares, C, Heilstedt, HA, Shaffer, LG, Schwartz, S, Berk, M, Murray, JC and Stavnezer, E (2002) Loss of the SKI proto-oncogene in individuals affected with 1p36 deletion syndrome is predicted by strain-dependent defects in Ski-/- mice. Nat. Genet. 30:106-9

Abstract

Experiments involving overexpression of Ski have suggested that this gene is involved in neural tube development and muscle differentiation. In agreement with these findings, Ski-/- mice display a cranial neural tube defect that results in exencephaly and a marked reduction in skeletal muscle mass. Here we show that the penetrance and expressivity of the phenotype changes when the null mutation is backcrossed into the C57BL6/J background, with the principal change involving a switch from a neural tube defect to midline facial clefting. Other defects, including depressed nasal bridge, eye abnormalities, skeletal muscle defects and digit abnormalities, show increased penetrance in the C57BL6/J background. These phenotypes are interesting because they resemble some of the features observed in individuals diagnosed with 1p36 deletion syndrome, a disorder caused by monosomy of the short arm of human chromosome 1p (refs. 6-9). These similarities prompted us to re-examine the chromosomal location of human SKI and to determine whether SKI is included in the deletions of 1p36. We found that human SKI is located at distal 1p36.3 and is deleted in all of the individuals tested so far who have this syndrome. Thus, SKI may contribute to some of the phenotypes common in 1p36 deletion syndrome, and particularly to facial clefting.

Links

PubMed Online version:10.1038/ng770

Keywords

Abnormalities, Multiple/genetics; Animals; Chromosomes, Artificial, Bacterial/genetics; Chromosomes, Human, Pair 1/genetics; DNA-Binding Proteins/deficiency; DNA-Binding Proteins/genetics; Embryonic and Fetal Development/genetics; Face/abnormalities; Fetal Proteins/deficiency; Fetal Proteins/genetics; Gene Deletion; Gene Expression Regulation, Developmental/genetics; Humans; Mice; Mice, Inbred C57BL; Mice, Knockout; Models, Genetic; Monosomy; Neural Tube Defects/genetics; Phenotype; Proto-Oncogene Proteins/deficiency; Proto-Oncogene Proteins/genetics; Proto-Oncogenes; Species Specificity; Syndrome; Transcription Factors/deficiency; Transcription Factors/genetics

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

MOUSE:SKI

acts_upstream_of_or_within

GO:0021772: olfactory bulb development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177555

P

  • results_in_development_of:(EMAPA:32809)

Seeded From UniProt

complete

MOUSE:SKI

acts_upstream_of_or_within

GO:0009948: anterior/posterior axis specification

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177555

P

  • occurs_in:(EMAPA:17428)|occurs_in:(EMAPA:17459)

Seeded From UniProt

complete

MOUSE:SKI

acts_upstream_of_or_within

GO:0060325: face morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177555

P

Seeded From UniProt

complete

MOUSE:SKI

acts_upstream_of_or_within

GO:0060021: roof of mouth development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177555

P

  • results_in_development_of:(EMAPA:18948)

Seeded From UniProt

complete

MOUSE:SKI

acts_upstream_of_or_within

GO:0043585: nose morphogenesis

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177555

P

Seeded From UniProt

complete

MOUSE:SKI

acts_upstream_of_or_within

GO:0043010: camera-type eye development

ECO:0000315: mutant phenotype evidence used in manual assertion

MGI:MGI:2177555

P

  • results_in_development_of:(EMAPA:19154)

Seeded From UniProt

complete


See also

References

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