Entry - *606040 - WD REPEAT-CONTAINING PROTEIN 8; WDR8 - OMIM
 
* 606040

WD REPEAT-CONTAINING PROTEIN 8; WDR8


HGNC Approved Gene Symbol: WRAP73

Cytogenetic location: 1p36.32     Genomic coordinates (GRCh38): 1:3,630,770-3,650,103 (from NCBI)


TEXT

Description

A conserved core of 4 or more modular repeat units defines a group of functionally diverse regulatory proteins in eukaryotes known as the WD repeat family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation (summary by Claudio et al., 1999).


Cloning and Expression

By means of the differential display method using ttw (see 602475), a mouse model for the early stage of ectopic ossification, Koshizuka et al. (2001) identified a novel mouse WD repeat gene and its human homolog, designated WDR8. The human and mouse WDR8 genes encode proteins of 460 and 462 amino acids, respectively, with approximately 89% identity. Northern blot analysis in human tissues detected 1.7- and 4.4-kb WDR8 transcripts in almost all tissues, with predominant expression in heart, brain, liver, thymus, prostate, and testis, and barely detectable expression in lung. It was unclear whether the larger transcript was a product of alternative splicing, unprocessed RNA, or another gene. A similar expression pattern was found in mouse. RT-PCR in mouse tissues demonstrated expression in bone and cartilage, and in bone-forming cells, including osteoblasts and chondrocytes, during the stage of endochondral ossification. The WDR8 protein was found to be localized in the cytoplasm.


Gene Structure

Koshizuka et al. (2001) determined that the human WDR8 gene contains 12 exons, spanning 14.3 kb of genomic DNA.


Mapping

By in situ hybridization, Koshizuka et al. (2001) mapped the WDR8 gene to human chromosome 1p36.3.


REFERENCES

  1. Claudio, J. O., Liew, C.-C., Ma, J., Heng, H. H. Q., Stewart, A. K., Hawley, R. G. Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13. Genomics 59: 85-89, 1999. [PubMed: 10395803, related citations] [Full Text]

  2. Koshizuka, Y., Ikegawa, S., Sano, M., Nakamura, K., Nakamura, Y. Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene family. Genomics 72: 252-259, 2001. [PubMed: 11401440, related citations] [Full Text]


Creation Date:
Carol A. Bocchini : 6/20/2001
carol : 10/05/2016
carol : 07/01/2010
joanna : 6/20/2001
mcapotos : 6/20/2001
carol : 6/20/2001

* 606040

WD REPEAT-CONTAINING PROTEIN 8; WDR8


HGNC Approved Gene Symbol: WRAP73

Cytogenetic location: 1p36.32     Genomic coordinates (GRCh38): 1:3,630,770-3,650,103 (from NCBI)


TEXT

Description

A conserved core of 4 or more modular repeat units defines a group of functionally diverse regulatory proteins in eukaryotes known as the WD repeat family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Proteins belonging to the WD repeat family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation (summary by Claudio et al., 1999).


Cloning and Expression

By means of the differential display method using ttw (see 602475), a mouse model for the early stage of ectopic ossification, Koshizuka et al. (2001) identified a novel mouse WD repeat gene and its human homolog, designated WDR8. The human and mouse WDR8 genes encode proteins of 460 and 462 amino acids, respectively, with approximately 89% identity. Northern blot analysis in human tissues detected 1.7- and 4.4-kb WDR8 transcripts in almost all tissues, with predominant expression in heart, brain, liver, thymus, prostate, and testis, and barely detectable expression in lung. It was unclear whether the larger transcript was a product of alternative splicing, unprocessed RNA, or another gene. A similar expression pattern was found in mouse. RT-PCR in mouse tissues demonstrated expression in bone and cartilage, and in bone-forming cells, including osteoblasts and chondrocytes, during the stage of endochondral ossification. The WDR8 protein was found to be localized in the cytoplasm.


Gene Structure

Koshizuka et al. (2001) determined that the human WDR8 gene contains 12 exons, spanning 14.3 kb of genomic DNA.


Mapping

By in situ hybridization, Koshizuka et al. (2001) mapped the WDR8 gene to human chromosome 1p36.3.


REFERENCES

  1. Claudio, J. O., Liew, C.-C., Ma, J., Heng, H. H. Q., Stewart, A. K., Hawley, R. G. Cloning and expression analysis of a novel WD repeat gene, WDR3, mapping to 1p12-p13. Genomics 59: 85-89, 1999. [PubMed: 10395803] [Full Text: https://doi.org/10.1006/geno.1999.5858]

  2. Koshizuka, Y., Ikegawa, S., Sano, M., Nakamura, K., Nakamura, Y. Isolation, characterization, and mapping of the mouse and human WDR8 genes, members of a novel WD-repeat gene family. Genomics 72: 252-259, 2001. [PubMed: 11401440] [Full Text: https://doi.org/10.1006/geno.2000.6475]


Creation Date:
Carol A. Bocchini : 6/20/2001

Edit History:
carol : 10/05/2016
carol : 07/01/2010
joanna : 6/20/2001
mcapotos : 6/20/2001
carol : 6/20/2001