Entry - *602162 - SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1 - OMIM
 
* 602162

SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1


Alternative titles; symbols

SCP1


HGNC Approved Gene Symbol: SYCP1

Cytogenetic location: 1p13.2   Genomic coordinates (GRCh38) : 1:114,854,088-114,995,370 (from NCBI)


TEXT

Cloning and Expression

Synaptonemal complexes are meiosis-specific nuclear organelles that appear to be involved at the meiotic prophase in chromosome rearrangements such as chromosome pairing and recombination. In the case of yeast, several defective mutants of meiosis have been shown to be defective in synaptonemal complex assembly or disassembly. Meuwissen et al. (1992) cloned a rat cDNA encoding Sycp1, a major component of the transverse filaments of synaptonemal complexes. Using rat probes, Meuwissen et al. (1997) isolated the human homolog from a testis cDNA library. The SYCP1 cDNA predicts a protein of 976 amino acids that is approximately 75% identical to the rat and mouse homologs. The protein contains an N-terminal acidic domain, an alpha-helical domain, and a C-terminal basic domain. The SYCP1 protein sequence has some similarity to the sequence of several filamentous proteins, such as keratin and myosin.


Gene Function

Visvanathan et al. (2007) found that Scp1 inhibited neural development in embryonic chicken neural tube. They identified 3 evolutionarily conserved miR124 (see MIRN124A1; 609327) target sites in the 3-prime UTRs of mouse, rat, dog, and human SCP1 mRNA, and reporter analysis showed that miR124 directly targeted these sites in mouse Scp1 and suppressed its expression. In developing chicken spinal cord, antagonism of miR124 phenocopied Scp1 overexpression and vice versa. In embryonic mouse P19 cells, miR124 suppressed Scp1 expression and induced neurogenesis, and Scp1 counteracted the proneural activity of miR124. Visvanathan et al. (2007) concluded that timely downregulation of SCP1 in the central nervous system is critical for inducing neurogenesis and that miR124 contributes to this process by downregulating SCP1 expression.


Mapping

By fluorescence in situ hybridization, Meuwissen et al. (1997) mapped the SYCP1 gene to human chromosome 1p13-p12. Also by fluorescence in situ hybridization, Kondoh et al. (1997) mapped the SYCP1 gene to 1p13.


Animal Model

De Vries et al. (2005) found that Sycp1-null mice were infertile but otherwise healthy. Mutant spermatocytes formed normal axial elements that aligned homologously but did not synapse. Most Sycp1-null spermatocytes arrested in pachynema, whereas a small proportion reached diplonema, or, exceptionally, metaphase I. Crossovers were rare in metaphase I of Sycp1-null mice. In addition, Sycp1-null spermatocytes did not form XY bodies. De Vries et al. (2005) proposed that SYCP1 has a coordinating role ensuring the formation of crossovers for recombination events.


REFERENCES

  1. de Vries, F. A. T., de Boer, E., van den Bosch, M., Baarends, W. M., Ooms, M., Yuan, L., Liu, J.-G., van Zeeland, A. A., Heyting, C., Pastink, A. Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation. Genes Dev. 19: 1376-1389, 2005. [PubMed: 15937223, images, related citations] [Full Text]

  2. Kondoh, N., Nishina, Y., Tsuchida, J., Koga, M., Tanaka, H., Uchida, K., Inazawa, J., Taketo, M., Nozaki, M., Nojima, H., Matsumiya, K., Namiki, M., Okuyama, A., Nishimune, Y. Assignment of synaptonemal complex protein 1 (SCP1) to human chromosome 1p13 by fluorescence in situ hybridization and its expression in the testis. Cytogenet. Cell Genet. 78: 103-104, 1997. [PubMed: 9371398, related citations] [Full Text]

  3. Meuwissen, R. L. J., Meerts, I., Hoovers, J. M. N., Leschot, N. J., Heyting, C. Human synaptonemal complex protein 1 (SCP1): isolation and characterization of the cDNA and chromosomal localization of the gene. Genomics 39: 377-384, 1997. [PubMed: 9119375, related citations] [Full Text]

  4. Meuwissen, R. L. J., Offenberg, H. H., Dietrich, A. J. J., Riesewijk, A., van Iersel, M., Heyting, C. A coiled-coil related protein specific for synapsed regions of meiotic prophase chromosomes. EMBO J. 11: 5091-5100, 1992. [PubMed: 1464329, related citations] [Full Text]

  5. Visvanathan, J., Lee, S., Lee, B., Lee, J. W., Lee, S.-K. The microRNA miR-124 antagonizes the anti-neural REST/SCP1 pathway during embryonic CNS development. Genes Dev. 21: 744-749, 2007. [PubMed: 17403776, images, related citations] [Full Text]


Patricia A. Hartz - updated : 5/15/2007
Patricia A. Hartz - updated : 7/6/2005
Jennifer P. Macke - updated : 1/30/1998
Creation Date:
Victor A. McKusick : 12/10/1997
mgross : 02/04/2009
mgross : 5/30/2007
mgross : 5/30/2007
terry : 5/15/2007
mgross : 7/12/2005
terry : 7/6/2005
carol : 5/20/1998
dholmes : 3/9/1998
carol : 2/4/1998
mark : 12/10/1997

* 602162

SYNAPTONEMAL COMPLEX PROTEIN 1; SYCP1


Alternative titles; symbols

SCP1


HGNC Approved Gene Symbol: SYCP1

Cytogenetic location: 1p13.2   Genomic coordinates (GRCh38) : 1:114,854,088-114,995,370 (from NCBI)


TEXT

Cloning and Expression

Synaptonemal complexes are meiosis-specific nuclear organelles that appear to be involved at the meiotic prophase in chromosome rearrangements such as chromosome pairing and recombination. In the case of yeast, several defective mutants of meiosis have been shown to be defective in synaptonemal complex assembly or disassembly. Meuwissen et al. (1992) cloned a rat cDNA encoding Sycp1, a major component of the transverse filaments of synaptonemal complexes. Using rat probes, Meuwissen et al. (1997) isolated the human homolog from a testis cDNA library. The SYCP1 cDNA predicts a protein of 976 amino acids that is approximately 75% identical to the rat and mouse homologs. The protein contains an N-terminal acidic domain, an alpha-helical domain, and a C-terminal basic domain. The SYCP1 protein sequence has some similarity to the sequence of several filamentous proteins, such as keratin and myosin.


Gene Function

Visvanathan et al. (2007) found that Scp1 inhibited neural development in embryonic chicken neural tube. They identified 3 evolutionarily conserved miR124 (see MIRN124A1; 609327) target sites in the 3-prime UTRs of mouse, rat, dog, and human SCP1 mRNA, and reporter analysis showed that miR124 directly targeted these sites in mouse Scp1 and suppressed its expression. In developing chicken spinal cord, antagonism of miR124 phenocopied Scp1 overexpression and vice versa. In embryonic mouse P19 cells, miR124 suppressed Scp1 expression and induced neurogenesis, and Scp1 counteracted the proneural activity of miR124. Visvanathan et al. (2007) concluded that timely downregulation of SCP1 in the central nervous system is critical for inducing neurogenesis and that miR124 contributes to this process by downregulating SCP1 expression.


Mapping

By fluorescence in situ hybridization, Meuwissen et al. (1997) mapped the SYCP1 gene to human chromosome 1p13-p12. Also by fluorescence in situ hybridization, Kondoh et al. (1997) mapped the SYCP1 gene to 1p13.


Animal Model

De Vries et al. (2005) found that Sycp1-null mice were infertile but otherwise healthy. Mutant spermatocytes formed normal axial elements that aligned homologously but did not synapse. Most Sycp1-null spermatocytes arrested in pachynema, whereas a small proportion reached diplonema, or, exceptionally, metaphase I. Crossovers were rare in metaphase I of Sycp1-null mice. In addition, Sycp1-null spermatocytes did not form XY bodies. De Vries et al. (2005) proposed that SYCP1 has a coordinating role ensuring the formation of crossovers for recombination events.


REFERENCES

  1. de Vries, F. A. T., de Boer, E., van den Bosch, M., Baarends, W. M., Ooms, M., Yuan, L., Liu, J.-G., van Zeeland, A. A., Heyting, C., Pastink, A. Mouse Sycp1 functions in synaptonemal complex assembly, meiotic recombination, and XY body formation. Genes Dev. 19: 1376-1389, 2005. [PubMed: 15937223] [Full Text: https://doi.org/10.1101/gad.329705]

  2. Kondoh, N., Nishina, Y., Tsuchida, J., Koga, M., Tanaka, H., Uchida, K., Inazawa, J., Taketo, M., Nozaki, M., Nojima, H., Matsumiya, K., Namiki, M., Okuyama, A., Nishimune, Y. Assignment of synaptonemal complex protein 1 (SCP1) to human chromosome 1p13 by fluorescence in situ hybridization and its expression in the testis. Cytogenet. Cell Genet. 78: 103-104, 1997. [PubMed: 9371398] [Full Text: https://doi.org/10.1159/000134637]

  3. Meuwissen, R. L. J., Meerts, I., Hoovers, J. M. N., Leschot, N. J., Heyting, C. Human synaptonemal complex protein 1 (SCP1): isolation and characterization of the cDNA and chromosomal localization of the gene. Genomics 39: 377-384, 1997. [PubMed: 9119375] [Full Text: https://doi.org/10.1006/geno.1996.4373]

  4. Meuwissen, R. L. J., Offenberg, H. H., Dietrich, A. J. J., Riesewijk, A., van Iersel, M., Heyting, C. A coiled-coil related protein specific for synapsed regions of meiotic prophase chromosomes. EMBO J. 11: 5091-5100, 1992. [PubMed: 1464329] [Full Text: https://doi.org/10.1002/j.1460-2075.1992.tb05616.x]

  5. Visvanathan, J., Lee, S., Lee, B., Lee, J. W., Lee, S.-K. The microRNA miR-124 antagonizes the anti-neural REST/SCP1 pathway during embryonic CNS development. Genes Dev. 21: 744-749, 2007. [PubMed: 17403776] [Full Text: https://doi.org/10.1101/gad.1519107]


Contributors:
Patricia A. Hartz - updated : 5/15/2007
Patricia A. Hartz - updated : 7/6/2005
Jennifer P. Macke - updated : 1/30/1998

Creation Date:
Victor A. McKusick : 12/10/1997

Edit History:
mgross : 02/04/2009
mgross : 5/30/2007
mgross : 5/30/2007
terry : 5/15/2007
mgross : 7/12/2005
terry : 7/6/2005
carol : 5/20/1998
dholmes : 3/9/1998
carol : 2/4/1998
mark : 12/10/1997