Entry - *616444 - RNA-BINDING MOTIF PROTEIN 19; RBM19 - OMIM
 
* 616444

RNA-BINDING MOTIF PROTEIN 19; RBM19


Alternative titles; symbols

KIAA0682


HGNC Approved Gene Symbol: RBM19

Cytogenetic location: 12q24.13-q24.21     Genomic coordinates (GRCh38): 12:113,816,740-113,966,325 (from NCBI)


TEXT

Description

RBM19 is predicted to function as an RNA-binding protein during ribosome biogenesis (Lorenzen et al., 2005).


Cloning and Expression

By sequencing clones obtained from a size-fractionated adult human brain cDNA library, Ishikawa et al. (1998) cloned RBM19, which they called KIAA0682. The transcript contains repetitive elements in its 3-prime end, and the deduced protein contains 960 amino acids. RT-PCR analysis detected KIAA0682 expression in all 10 human tissues examined. Database analysis revealed a possible ortholog in yeast.

By database analysis, Mayer and Fishman (2003) identified close orthologs of zebrafish rbm19, which they called npo, in several animal species, including human, with more distant orthologs in yeast and plants. The deduced metazoan proteins contain 6 highly conserved RNA recognition motifs. In situ hybridization detected ubiquitous npo expression in early zebrafish embryos. Later, expression became restricted to brain and anterior digestive tract. In digestive tract, npo expression increased and then decreased in waves in an anterior-to-posterior direction, leaving a residual stippled pattern of expression in intestine. Within a subset of endoderm-derived gut epithelial cells, npo staining appeared as cytoplasmic puncta.

Lorenzen et al. (2005) observed a dynamic pattern of Rbm19 mRNA expression in developing mouse and chicken intestine. Staining was initially diffuse, then localized to duodenum and eventually became restricted to undifferentiated epithelial progenitor cells in crypts of Lieberkuhn. Immunofluorescence staining of adult mouse duodenum localized Rbm19 to nucleoli. In human intestinal neoplasias, RBM19 expression increased with loss of polarity and increased cell motility. In mitotic Caco-2 human colorectal carcinoma cells, RBP19 localization became diffuse and recondensed during the cell cycle in a manner characteristic of nucleolar proteins. In differentiated Caco-2 cells, RBP19 localized to dense fibrillar components of nucleoli.


Mapping

By radiation hybrid analysis, Ishikawa et al. (1998) mapped the KIAA0682 gene to chromosome 12.

Hartz (2015) mapped the RBM19 gene to chromosome 12q24.13-q24.21 based on an alignment of the RBM19 sequence (GenBank AB014582) with the genomic sequence (GRCh38).


Animal Model

Using an N-ethyl-N-nitrosourea screen, Mayer and Fishman (2003) created zebrafish with a recessive lethal mutation that caused absence of gut, liver, and exocrine pancreas at 4.5 days postfertilization. Other organ systems were unaffected, and pancreatic islets and insulin expression were normal. Mayer and Fishman (2003) named the mutation 'nil per os' (npo), which is Latin for 'nothing but mouth.' Examination of npo embryos at earlier stages revealed the presence of primordial digestive organs, suggesting that npo governs progression between the primordial stage and the mature stage of gut and pancreatic development. Positional cloning identified the npo mutation in the zebrafish ortholog of RBM19. Morpholino-mediated knockdown of npo abrogated differentiation of digestive organs similar to that found in npo mutants.


REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 6/29/2015.

  2. Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 169-176, 1998. [PubMed: 9734811, related citations] [Full Text]

  3. Lorenzen, J. A., Bonacci, B. B., Palmer, R. E., Wells, C., Zhang, J., Haber, D. A., Goldstein, A. M., Mayer, A. N. Rbm19 is a nucleolar protein expressed in crypt/progenitor cells of the intestinal epithelium. Gene Expression Patterns 6: 45-56, 2005. [PubMed: 16027046, related citations] [Full Text]

  4. Mayer, A. N., Fishman, M. C. nil per os encodes a conserved RNA recognition motif protein required for morphogenesis and cytodifferentiation of digestive organs in zebrafish. Development 130: 3917-3928, 2003. [PubMed: 12874115, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 6/29/2015
mgross : 06/30/2015
mcolton : 6/29/2015

* 616444

RNA-BINDING MOTIF PROTEIN 19; RBM19


Alternative titles; symbols

KIAA0682


HGNC Approved Gene Symbol: RBM19

Cytogenetic location: 12q24.13-q24.21     Genomic coordinates (GRCh38): 12:113,816,740-113,966,325 (from NCBI)


TEXT

Description

RBM19 is predicted to function as an RNA-binding protein during ribosome biogenesis (Lorenzen et al., 2005).


Cloning and Expression

By sequencing clones obtained from a size-fractionated adult human brain cDNA library, Ishikawa et al. (1998) cloned RBM19, which they called KIAA0682. The transcript contains repetitive elements in its 3-prime end, and the deduced protein contains 960 amino acids. RT-PCR analysis detected KIAA0682 expression in all 10 human tissues examined. Database analysis revealed a possible ortholog in yeast.

By database analysis, Mayer and Fishman (2003) identified close orthologs of zebrafish rbm19, which they called npo, in several animal species, including human, with more distant orthologs in yeast and plants. The deduced metazoan proteins contain 6 highly conserved RNA recognition motifs. In situ hybridization detected ubiquitous npo expression in early zebrafish embryos. Later, expression became restricted to brain and anterior digestive tract. In digestive tract, npo expression increased and then decreased in waves in an anterior-to-posterior direction, leaving a residual stippled pattern of expression in intestine. Within a subset of endoderm-derived gut epithelial cells, npo staining appeared as cytoplasmic puncta.

Lorenzen et al. (2005) observed a dynamic pattern of Rbm19 mRNA expression in developing mouse and chicken intestine. Staining was initially diffuse, then localized to duodenum and eventually became restricted to undifferentiated epithelial progenitor cells in crypts of Lieberkuhn. Immunofluorescence staining of adult mouse duodenum localized Rbm19 to nucleoli. In human intestinal neoplasias, RBM19 expression increased with loss of polarity and increased cell motility. In mitotic Caco-2 human colorectal carcinoma cells, RBP19 localization became diffuse and recondensed during the cell cycle in a manner characteristic of nucleolar proteins. In differentiated Caco-2 cells, RBP19 localized to dense fibrillar components of nucleoli.


Mapping

By radiation hybrid analysis, Ishikawa et al. (1998) mapped the KIAA0682 gene to chromosome 12.

Hartz (2015) mapped the RBM19 gene to chromosome 12q24.13-q24.21 based on an alignment of the RBM19 sequence (GenBank AB014582) with the genomic sequence (GRCh38).


Animal Model

Using an N-ethyl-N-nitrosourea screen, Mayer and Fishman (2003) created zebrafish with a recessive lethal mutation that caused absence of gut, liver, and exocrine pancreas at 4.5 days postfertilization. Other organ systems were unaffected, and pancreatic islets and insulin expression were normal. Mayer and Fishman (2003) named the mutation 'nil per os' (npo), which is Latin for 'nothing but mouth.' Examination of npo embryos at earlier stages revealed the presence of primordial digestive organs, suggesting that npo governs progression between the primordial stage and the mature stage of gut and pancreatic development. Positional cloning identified the npo mutation in the zebrafish ortholog of RBM19. Morpholino-mediated knockdown of npo abrogated differentiation of digestive organs similar to that found in npo mutants.


REFERENCES

  1. Hartz, P. A. Personal Communication. Baltimore, Md. 6/29/2015.

  2. Ishikawa, K., Nagase, T., Suyama, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Ohara, O. Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. DNA Res. 5: 169-176, 1998. [PubMed: 9734811] [Full Text: https://doi.org/10.1093/dnares/5.3.169]

  3. Lorenzen, J. A., Bonacci, B. B., Palmer, R. E., Wells, C., Zhang, J., Haber, D. A., Goldstein, A. M., Mayer, A. N. Rbm19 is a nucleolar protein expressed in crypt/progenitor cells of the intestinal epithelium. Gene Expression Patterns 6: 45-56, 2005. [PubMed: 16027046] [Full Text: https://doi.org/10.1016/j.modgep.2005.05.001]

  4. Mayer, A. N., Fishman, M. C. nil per os encodes a conserved RNA recognition motif protein required for morphogenesis and cytodifferentiation of digestive organs in zebrafish. Development 130: 3917-3928, 2003. [PubMed: 12874115] [Full Text: https://doi.org/10.1242/dev.00600]


Creation Date:
Patricia A. Hartz : 6/29/2015

Edit History:
mgross : 06/30/2015
mcolton : 6/29/2015