Genomes and Genes
Gene Symbol: brachymorphic
Description: 3'-phosphoadenosine 5'-phosphosulfate synthase 2
Alias: 1810018P12Rik, AI159688, AtpsU2, Atpsk2, Sk2, bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthase 2, PAPS synthase 2, brachymorphic, sulfurylase kinase 2
- Rusiniak M, O Brien E, Novak E, Barone S, McGarry M, Reddington M, et al. Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time. Mamm Genome. 1996;7:98-102 pubmed..Accordingly, three mouse mutants (brachymorphic [bm], hemimelic extra toes [Hx], and ulnaless [Ul]), with inherited skeletal abnormalities, were analyzed for ..
- Pratt R, Salomon D, Diewert V, Erickson R, Burns R, Brown K. Cortisone-induced cleft palate in the brachymorphic mouse. Teratog Carcinog Mutagen. 1980;1:15-23 pubmedPrevious studies have shown that the autosomal recessive gene brachymorphic (bm/bm), which is maintained on a C57BL/6J (C57) background, reduces limb growth and sulfation of cartilage proteoglycans...
- Timms G, Holmes R. Genetics of aldehyde dehydrogenase isozymes in the mouse: evidence for multiple loci and localization of Ahd-2 on chromosome 19. Genetics. 1981;97:327-36 pubmed..Linkage data of Ahd-2 with ep (pale ears), ru (ruby eyes) and bm (brachymorphic) suggest that it is localized near the centromeric end of chromosome 19...
- Brown K, Hetzel S, Harne L. Craniofacial consequences of connective tissue disorders in mice. Birth Defects Orig Artic Ser. 1984;20:113-36 pubmed
- Orkin R, Williams B, Cranley R, Poppke D, Brown K. Defects in the cartilaginous growth plates of brachymorphic mice. J Cell Biol. 1977;73:287-99 pubmedHomozygous brachymorphic (bm/bm) mice are characterized by disproportionately short stature. Newborn bm/bm epiphyseal cartilages are shorter than normal although the cells in the different zones of growth are relatively well organized...
- Eicher E, Washburn L. Assignment of genes to regions of mouse chromosomes. Proc Natl Acad Sci U S A. 1978;75:946-50 pubmed
- Schröder E, Gebel L, Eremeev A, Morgner J, Grum D, Knauer S, et al. Human PAPS synthase isoforms are dynamically regulated enzymes with access to nucleus and cytoplasm. PLoS ONE. 2012;7:e29559 pubmed publisher..Collectively, we describe unusual localisation signals of both PAPS synthase isoforms, mobile enzymes capable of executing their function in the cytoplasm as well as in the nucleus. ..
- Miller W, Flynn Miller K. A chondroplastic, brachymorphic and stubby chondrodystophies in mice. J Comp Pathol. 1976;86:349-63 pubmed
- Vanky P, Brockstedt U, Nurminen M, Wikstrom B, Hjerpe A. Growth parameters in the epiphyseal cartilage of brachymorphic (bm/bm) mice. Calcif Tissue Int. 2000;66:355-62 pubmedWe studied kinetics in the epiphyseal cartilage of the brachymorphic (bm/bm) mouse, combining morphometry and labeling with halogenated nucleotides...
- Cortes M, Baria A, Schwartz N. Sulfation of chondroitin sulfate proteoglycans is necessary for proper Indian hedgehog signaling in the developing growth plate. Development. 2009;136:1697-706 pubmed publisher..the importance of sulfated CSPGs in signaling paradigms required for endochondral bone formation, the brachymorphic (bm) mouse was used as a model for undersulfated CSPGs...
- Lyle S, Stanczak J, Westley J, Schwartz N. Sulfate-activating enzymes in normal and brachymorphic mice: evidence for a channeling defect. Biochemistry. 1995;34:940-5 pubmedThe severe reduction in the amount of 3'-phosphoadenosine 5'-phosphosulfate (PAPS) in cartilage from homozygous brachymorphic mice results from a decrease in the activities of both ATP sulfurylase (50%) and adenosine 5'-phosphosulfate (..
- Silberberg R, Lesker P. Defective endochondral ossification in brachymorphic mice. J Comp Pathol. 1977;87:319-23 pubmed
- Wang W, Li F, Wang K, Cheng B, Guo X. PAPSS2 promotes alkaline phosphates activity and mineralization of osteoblastic MC3T3-E1 cells by crosstalk and Smads signal pathways. PLoS ONE. 2012;7:e43475 pubmed publisher..These results suggest that PAPSS2 might regulate osteoblast ALP activity and cell mineralization, probably through Smads signal pathways. ..
- Wezeman F, Bollnow M. Immunohistochemical localization of fibroblast growth factor-2 in normal and brachymorphic mouse tibial growth plate and articular cartilage. Histochem J. 1997;29:505-14 pubmedEpiphyses of the proximal tibiae of 7-week-old normal and homozygous recessive brachymorphic mice (bm/bm) were immunostained using a monoclonal antibody to basic fibroblast growth factor to determine its expression in growth plate ..
- Hudson B, Frederick J, Drake L, Megosh L, Irving R, York J. Role for cytoplasmic nucleotide hydrolysis in hepatic function and protein synthesis. Proc Natl Acad Sci U S A. 2013;110:5040-5 pubmed publisher..Overall, our study defines a role for Bpnt1 in mammalian physiology and provides mechanistic insights into the importance of sulfur assimilation and cytoplasmic PAP hydrolysis to normal liver function. ..
- Capellini T, Dunn M, Passamaneck Y, Selleri L, Di Gregorio A. Conservation of notochord gene expression across chordates: insights from the Leprecan gene family. Genesis. 2008;46:683-96 pubmed publisher..These results have interesting implications for the evolution and development of chordates...
- Johnson D. The growth of femur and tibia in three genetically distinct chondrodystrophic mutants of the house mouse. J Anat. 1978;125:267-75 pubmed..and tibiae has been measured in mice carrying three distinct chondrodystrophic mutants (achondroplasia cn, brachymorphic bm and stumpy stm) aged 6--128 days, and in normal litter-mates...
- Cobb J, Duboule D. Comparative analysis of genes downstream of the Hoxd cluster in developing digits and external genitalia. Development. 2005;132:3055-67 pubmed..e. the digits and the penis/clitoris. ..
- Pennypacker J, Kimata K, Brown K. Brachymorphic mice (bm/bm): a generalized biochemical defect expressed primarily cartilage. Dev Biol. 1981;81:280-7 pubmed
- Lane P, Eicher E, Southard J. Chromosome 19 of the house mouse. J Hered. 1974;65:297-300 pubmed
- Sugahara K, Schwartz N. Defect in 3'-phosphoadenosine 5'-phosphosulfate formation in brachymorphic mice. Proc Natl Acad Sci U S A. 1979;76:6615-8 pubmed..was simultaneously assessed with extracts prepared from epiphyseal cartilage of neonatal normal or homozygous brachymorphic mice...
- Xu Z, Otterness D, Freimuth R, Carlini E, Wood T, Mitchell S, et al. Human 3'-phosphoadenosine 5'-phosphosulfate synthetase 1 (PAPSS1) and PAPSS2: gene cloning, characterization and chromosomal localization. Biochem Biophys Res Commun. 2000;268:437-44 pubmed..Cloning and structural characterization of PAPSS1 and PAPSS2 will make it possible to perform molecular genetic and pharmacogenomic studies of these important enzymes in humans. ..
- Kurima K, Singh B, Schwartz N. Genomic organization of the mouse and human genes encoding the ATP sulfurylase/adenosine 5'-phosphosulfate kinase isoform SK2. J Biol Chem. 1999;274:33306-12 pubmed..We have characterized the genomic structure of the PAPS synthetase SK2 isoform genes for mouse (MSK2) and human (HSK2) and analyzed the possible fusion region...
- O Brien E, Novak E, Keller S, Poirier C, Guenet J, Swank R. Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm. Mamm Genome. 1994;5:356-60 pubmed..The brachymorphic (bm) gene, in addition to causing skeletal abnormalities, is also associated with prolonged bleeding times...
- Wikstrom B, Gay R, Gay S, Hjerpe A, Mengarelli S, Reinholt F, et al. Morphological studies of the epiphyseal growth zone in the brachymorphic (bm/bm) mouse. Virchows Arch B Cell Pathol Incl Mol Pathol. 1984;47:167-76 pubmed..immunohistochemical techniques, and electron microscopy were performed on epiphyseal growth cartilage from brachymorphic (bm/bm) mice and age-matched phenotypically normal siblings aged 5, 16 and 25 days...
- Lane P, Dickie M. Three recessive mutations producing disproportionate dwarfing in mice: achondroplasia, brachymorphic, and stubby. J Hered. 1968;59:300-8 pubmed
- Boskey A, Maresca M, Wikstrom B, Hjerpe A. Hydroxyapatite formation in the presence of proteoglycans of reduced sulfate content: studies in the brachymorphic mouse. Calcif Tissue Int. 1991;49:389-93 pubmedProteoglycans from the brachymorphic (bm/bm) mouse have a reduced sulfate content due to the impaired activity of adenosine phosphosulfate phosphokinase in these animals...