Entry - *609175 - DSN1, MIS12 KINETOCHORE COMPLEX COMPONENT; DSN1 - OMIM

 
 
* 609175

DSN1, MIS12 KINETOCHORE COMPLEX COMPONENT; DSN1


Alternative titles; symbols

DSN1, S. CEREVISIAE, HOMOLOG OF
CHROMOSOME 20 OPEN READING FRAME 172; C20ORF172


HGNC Approved Gene Symbol: DSN1

Cytogenetic location: 20q11.23     Genomic coordinates (GRCh38): 20:36,751,795-36,773,763 (from NCBI)


TEXT

▼ Description

DSN1 is part of a kinetochore-associated multiprotein complex and is required for correct chromosome alignment during metaphase (Obuse et al., 2004).


▼ Cloning and Expression

Obuse et al. (2004) cloned human C20ORF172. The deduced 356-amino acid protein contains 2 coiled-coil regions. Immunofluorescence microscopy localized endogenous C20ORF172 to kinetochores in HeLa cells.


▼ Gene Function

Following overexpression of MIS12 (609178) in HeLa cells, Obuse et al. (2004) immunoprecipitated C20ORF172 with MIS12 in a kinetochore-associated multiprotein complex that contained DC8 (609174), PMF1 (609176), and HP1-alpha (CBX5; 604478). ZWINT (609177) also associated with the complex at kinetochores during mitosis. Obuse et al. (2004) found stable complex formation between C20ORF172 and MIS12 and between C20ORF172 and DC8; much less C20ORF172 bound ZWINT. RNA interference against C20ORF172 resulted in increased numbers of round M-phase or deformed dead HeLa cells. Mitotic progression was delayed, kinetochore signals and chromosomal DNA were misaligned, and the length of the metaphase spindle increased. Obuse et al. (2004) concluded that C20ORF172 is required for correct chromosome alignment during metaphase.


▼ Mapping

Gross (2016) mapped the DSN1 gene to chromosome 20q11.23 based on an alignment of the DSN1 sequence (GenBank BC058899) with the genomic sequence (GRCh38).

▼ REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 2/2/2016.

  2. Obuse, C., Iwasaki, O., Kiyomitsu, T., Goshima, G., Toyoda, Y., Yanagida, M. A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1. Nature Cell Biol. 6: 1135-1141, 2004. [PubMed: 15502821, related citations] [Full Text]


Contributors:
Matthew B. Gross - updated : 02/02/2016
Creation Date:
Patricia A. Hartz : 1/27/2005
Edit History:
mgross : 02/02/2016
mgross : 1/27/2005

* 609175

DSN1, MIS12 KINETOCHORE COMPLEX COMPONENT; DSN1


Alternative titles; symbols

DSN1, S. CEREVISIAE, HOMOLOG OF
CHROMOSOME 20 OPEN READING FRAME 172; C20ORF172


HGNC Approved Gene Symbol: DSN1

Cytogenetic location: 20q11.23     Genomic coordinates (GRCh38): 20:36,751,795-36,773,763 (from NCBI)


TEXT

Description

DSN1 is part of a kinetochore-associated multiprotein complex and is required for correct chromosome alignment during metaphase (Obuse et al., 2004).


Cloning and Expression

Obuse et al. (2004) cloned human C20ORF172. The deduced 356-amino acid protein contains 2 coiled-coil regions. Immunofluorescence microscopy localized endogenous C20ORF172 to kinetochores in HeLa cells.


Gene Function

Following overexpression of MIS12 (609178) in HeLa cells, Obuse et al. (2004) immunoprecipitated C20ORF172 with MIS12 in a kinetochore-associated multiprotein complex that contained DC8 (609174), PMF1 (609176), and HP1-alpha (CBX5; 604478). ZWINT (609177) also associated with the complex at kinetochores during mitosis. Obuse et al. (2004) found stable complex formation between C20ORF172 and MIS12 and between C20ORF172 and DC8; much less C20ORF172 bound ZWINT. RNA interference against C20ORF172 resulted in increased numbers of round M-phase or deformed dead HeLa cells. Mitotic progression was delayed, kinetochore signals and chromosomal DNA were misaligned, and the length of the metaphase spindle increased. Obuse et al. (2004) concluded that C20ORF172 is required for correct chromosome alignment during metaphase.


Mapping

Gross (2016) mapped the DSN1 gene to chromosome 20q11.23 based on an alignment of the DSN1 sequence (GenBank BC058899) with the genomic sequence (GRCh38).

REFERENCES

  1. Gross, M. B. Personal Communication. Baltimore, Md. 2/2/2016.

  2. Obuse, C., Iwasaki, O., Kiyomitsu, T., Goshima, G., Toyoda, Y., Yanagida, M. A conserved Mis12 centromere complex is linked to heterochromatic HP1 and outer kinetochore protein Zwint-1. Nature Cell Biol. 6: 1135-1141, 2004. [PubMed: 15502821] [Full Text: https://doi.org/10.1038/ncb1187]


Contributors:
Matthew B. Gross - updated : 02/02/2016

Creation Date:
Patricia A. Hartz : 1/27/2005

Edit History:
mgross : 02/02/2016
mgross : 1/27/2005



NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: April 19, 2024