Entry - *601945 - SPLICING FACTOR, SUPPRESSOR-OF-WHITE-APRICOT FAMILY; SFSWAP - OMIM
 
* 601945

SPLICING FACTOR, SUPPRESSOR-OF-WHITE-APRICOT FAMILY; SFSWAP


Alternative titles; symbols

SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8
SUPPRESSOR-OF-WHITE-APRICOT, DROSOPHILA, HOMOLOG OF; SWAP


HGNC Approved Gene Symbol: SFSWAP

Cytogenetic location: 12q24.33     Genomic coordinates (GRCh38): 12:131,711,090-131,799,738 (from NCBI)


TEXT

Cloning and Expression

Suppressor-of-white-apricot, a Drosophila splicing regulator, regulates the splicing of the white-apricot pre-mRNA by means of an insertion of the copia retrotransposon into the second intron of the white locus (Chou et al., 1987). Zachar et al. (1987) showed that suppressor-of-white-apricot also regulates its own splicing through inhibition of splicing of the first or second introns of the pre-mRNA.

Denhez and Lafyatis (1994) immunoscreened a human placenta cDNA lambda gt11 expression library using synovial fluid from rheumatoid arthritis patients. They cloned and characterized the human (HsSWAP) and mouse (MmSWAP) homologs of the suppressor-of-white-apricot gene, which was later identified as SFRS8. The human gene encodes a 951-amino acid polypeptide containing putative nuclear localization sequences, an arginine/serine-rich (R/S) domain, and 2 repeated modules, known as surp modules, which are homologous to regions in the constitutive splicing factor SPP91/PRP21 (see 605595). Denhez and Lafyatis (1994) found that the mammalian SWAP mRNAs are alternatively spliced at the same splice sites as suppressor-of-white-apricot, showing that SWAP expression is regulated, presumably autogenously, by control of splicing of the first 2 introns.


Gene Function

Sarkissian et al. (1996) showed that SWAP not only regulates its own splicing but also the splicing of fibronectin (135600) and CD45 (151460). Mutation analysis showed that splicing regulation requires the R/S domain, which is thought to bind to other R/S domains. Sarkissian et al. (1996) suggested that SWAP acts, at least in part, by interaction with other R/S-containing splicing factors.


Mapping

Gross (2014) mapped the SFSWAP gene to chromosome 12q24.33 based on an alignment of the SFSWAP sequence (GenBank AB208921) with the genomic sequence (GRCh37).


REFERENCES

  1. Chou, T.-B, Zachar, Z., Bingham, P. M. Developmental expression of a regulatory gene is programmed at the level of splicing. EMBO J. 6: 4095-4104, 1987. [PubMed: 2832151, related citations] [Full Text]

  2. Denhez, F., Lafyatis, R. Conservation of regulated alternative splicing and identification of functional domains in vertebrate homologs to the Drosophila splicing regulator, suppressor-of-white-apricot. J. Biol. Chem. 269: 16170-16179, 1994. [PubMed: 8206918, related citations]

  3. Gross, M. B. Personal Communication. Baltimore, Md. 4/15/2014.

  4. Sarkissian, M., Winne, A., Lafyatis, R. The mammalian homolog of suppressor-of-white-apricot regulates alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS. J. Biol. Chem. 271: 31106-31114, 1996. [PubMed: 8940107, related citations] [Full Text]

  5. Zachar, Z., Chou, T.-B., Bingham, P. M. Evidence that a regulatory gene autoregulates splicing of its transcript. EMBO J. 6: 4105-4111, 1987. [PubMed: 3443103, related citations] [Full Text]


Matthew B. Gross - updated : 04/15/2014
Jennifer P. Macke - updated : 9/22/1997
Creation Date:
Lori M. Kelman : 8/18/1997
mgross : 04/15/2014
carol : 4/14/2014
carol : 12/9/2003
carol : 7/30/2003
mgross : 1/26/2001
alopez : 3/23/1999
alopez : 7/24/1998
alopez : 9/24/1997
alopez : 9/22/1997
dholmes : 9/19/1997
dholmes : 9/3/1997
dholmes : 8/28/1997
dholmes : 8/28/1997
dholmes : 8/19/1997

* 601945

SPLICING FACTOR, SUPPRESSOR-OF-WHITE-APRICOT FAMILY; SFSWAP


Alternative titles; symbols

SPLICING FACTOR, ARGININE/SERINE-RICH, 8; SFRS8
SUPPRESSOR-OF-WHITE-APRICOT, DROSOPHILA, HOMOLOG OF; SWAP


HGNC Approved Gene Symbol: SFSWAP

Cytogenetic location: 12q24.33     Genomic coordinates (GRCh38): 12:131,711,090-131,799,738 (from NCBI)


TEXT

Cloning and Expression

Suppressor-of-white-apricot, a Drosophila splicing regulator, regulates the splicing of the white-apricot pre-mRNA by means of an insertion of the copia retrotransposon into the second intron of the white locus (Chou et al., 1987). Zachar et al. (1987) showed that suppressor-of-white-apricot also regulates its own splicing through inhibition of splicing of the first or second introns of the pre-mRNA.

Denhez and Lafyatis (1994) immunoscreened a human placenta cDNA lambda gt11 expression library using synovial fluid from rheumatoid arthritis patients. They cloned and characterized the human (HsSWAP) and mouse (MmSWAP) homologs of the suppressor-of-white-apricot gene, which was later identified as SFRS8. The human gene encodes a 951-amino acid polypeptide containing putative nuclear localization sequences, an arginine/serine-rich (R/S) domain, and 2 repeated modules, known as surp modules, which are homologous to regions in the constitutive splicing factor SPP91/PRP21 (see 605595). Denhez and Lafyatis (1994) found that the mammalian SWAP mRNAs are alternatively spliced at the same splice sites as suppressor-of-white-apricot, showing that SWAP expression is regulated, presumably autogenously, by control of splicing of the first 2 introns.


Gene Function

Sarkissian et al. (1996) showed that SWAP not only regulates its own splicing but also the splicing of fibronectin (135600) and CD45 (151460). Mutation analysis showed that splicing regulation requires the R/S domain, which is thought to bind to other R/S domains. Sarkissian et al. (1996) suggested that SWAP acts, at least in part, by interaction with other R/S-containing splicing factors.


Mapping

Gross (2014) mapped the SFSWAP gene to chromosome 12q24.33 based on an alignment of the SFSWAP sequence (GenBank AB208921) with the genomic sequence (GRCh37).


REFERENCES

  1. Chou, T.-B, Zachar, Z., Bingham, P. M. Developmental expression of a regulatory gene is programmed at the level of splicing. EMBO J. 6: 4095-4104, 1987. [PubMed: 2832151] [Full Text: https://doi.org/10.1002/j.1460-2075.1987.tb02755.x]

  2. Denhez, F., Lafyatis, R. Conservation of regulated alternative splicing and identification of functional domains in vertebrate homologs to the Drosophila splicing regulator, suppressor-of-white-apricot. J. Biol. Chem. 269: 16170-16179, 1994. [PubMed: 8206918]

  3. Gross, M. B. Personal Communication. Baltimore, Md. 4/15/2014.

  4. Sarkissian, M., Winne, A., Lafyatis, R. The mammalian homolog of suppressor-of-white-apricot regulates alternative mRNA splicing of CD45 exon 4 and fibronectin IIICS. J. Biol. Chem. 271: 31106-31114, 1996. [PubMed: 8940107] [Full Text: https://doi.org/10.1074/jbc.271.49.31106]

  5. Zachar, Z., Chou, T.-B., Bingham, P. M. Evidence that a regulatory gene autoregulates splicing of its transcript. EMBO J. 6: 4105-4111, 1987. [PubMed: 3443103] [Full Text: https://doi.org/10.1002/j.1460-2075.1987.tb02756.x]


Contributors:
Matthew B. Gross - updated : 04/15/2014
Jennifer P. Macke - updated : 9/22/1997

Creation Date:
Lori M. Kelman : 8/18/1997

Edit History:
mgross : 04/15/2014
carol : 4/14/2014
carol : 12/9/2003
carol : 7/30/2003
mgross : 1/26/2001
alopez : 3/23/1999
alopez : 7/24/1998
alopez : 9/24/1997
alopez : 9/22/1997
dholmes : 9/19/1997
dholmes : 9/3/1997
dholmes : 8/28/1997
dholmes : 8/28/1997
dholmes : 8/19/1997