Genomes and Genes
Gene Symbol: Col1a1
Description: collagen, type I, alpha 1
Alias: Col1a-1, Cola-1, Cola1, Mov-13, Mov13, collagen alpha-1(I) chain, alpha-1 type 1 collagen, alpha-1 type I collagen, procollagen, type I, alpha 1
- Hochedlinger K, Yamada Y, Beard C, Jaenisch R. Ectopic expression of Oct-4 blocks progenitor-cell differentiation and causes dysplasia in epithelial tissues. Cell. 2005;121:465-77 pubmed..These data show that certain adult progenitors remain competent to interpret key embryonic signals and support the notion that progenitor cells are a driving force in tumorigenesis. ..
- Lisse T, Thiele F, Fuchs H, Hans W, Przemeck G, Abe K, et al. ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta. PLoS Genet. 2008;4:e7 pubmed publisher..gene was mapped to Chromosome 11 by linkage analysis, and a C-terminal frameshift mutation was identified in the Col1a1 (procollagen type I, alpha 1) gene as the cause of the disorder...
- Chakkalakal J, Jones K, Basson M, Brack A. The aged niche disrupts muscle stem cell quiescence. Nature. 2012;490:355-60 pubmed publisher..These experiments identify an age-dependent change in the stem cell niche that directly influences stem cell quiescence and function. ..
- Chen Z, Sasaki T, Tan X, Carretero J, Shimamura T, Li D, et al. Inhibition of ALK, PI3K/MEK, and HSP90 in murine lung adenocarcinoma induced by EML4-ALK fusion oncogene. Cancer Res. 2010;70:9827-36 pubmed publisher..Taken together, our findings define a murine model that offers a reliable platform for the preclinical comparison of combinatorial treatment approaches for lung cancer characterized by ALK rearrangement. ..
- Levi B, James A, Nelson E, Brugmann S, Sorkin M, Manu A, et al. Role of Indian hedgehog signaling in palatal osteogenesis. Plast Reconstr Surg. 2011;127:1182-90 pubmed publisher..during osteogenic differentiation and cellular differentiation (Shh, Ihh, Ptc1, Gli1, Gli2, Gli3, Runx2, Alp, and Col1a1)...
- McJunkin K, Mazurek A, Premsrirut P, Zuber J, Dow L, Simon J, et al. Reversible suppression of an essential gene in adult mice using transgenic RNA interference. Proc Natl Acad Sci U S A. 2011;108:7113-8 pubmed publisher..Overall, we have established a robust system that serves the purpose of temperature-sensitive alleles in other model organisms, enabling inducible and reversible suppression of essential genes in a mammalian system. ..
- Bowles J, Secker G, Nguyen C, Kazenwadel J, Truong V, Frampton E, et al. Control of retinoid levels by CYP26B1 is important for lymphatic vascular development in the mouse embryo. Dev Biol. 2014;386:25-33 pubmed publisher..Our studies identify a genetic pathway that underpins the architecture of the developing lymphatics and define CYP26B1 as a novel modulator of lymphatic vascular patterning. ..
- Egli D, Rosains J, Birkhoff G, Eggan K. Developmental reprogramming after chromosome transfer into mitotic mouse zygotes. Nature. 2007;447:679-85 pubmed..Thus, human zygotes and perhaps human embryonic blastomeres may be useful supplements to human oocytes for the creation of patient-derived human embryonic stem cells. ..
- Camargo F, Gokhale S, Johnnidis J, Fu D, Bell G, Jaenisch R, et al. YAP1 increases organ size and expands undifferentiated progenitor cells. Curr Biol. 2007;17:2054-60 pubmed..Our data show that the Hippo signaling pathway regulates organ size in mammals and can act on stem cell compartments, indicating a potential link between stem/progenitor cells, organ size, and cancer. ..
- Zhu H, Acquaviva J, Ramachandran P, Boskovitz A, Woolfenden S, Pfannl R, et al. Oncogenic EGFR signaling cooperates with loss of tumor suppressor gene functions in gliomagenesis. Proc Natl Acad Sci U S A. 2009;106:2712-6 pubmed publisher..Our findings provide critical insights into the role of mutant EGFR signaling function in GBM tumor biology and set the stage for testing of targeted therapeutic agents in the preclinical models described herein. ..
- Maes C, Goossens S, Bartunkova S, Drogat B, Coenegrachts L, Stockmans I, et al. Increased skeletal VEGF enhances beta-catenin activity and results in excessively ossified bones. EMBO J. 2010;29:424-41 pubmed publisher..Moreover, the finding that VEGF can modulate beta-catenin activity may have widespread physiological and clinical ramifications. ..
- Zhu H, Shah S, Shyh Chang N, Shinoda G, Einhorn W, Viswanathan S, et al. Lin28a transgenic mice manifest size and puberty phenotypes identified in human genetic association studies. Nat Genet. 2010;42:626-30 pubmed publisher..Here we report a mouse that models the human phenotypes associated with genetic variation in the Lin28-Let-7 pathway. ..
- Dow L, Premsrirut P, Zuber J, Fellmann C, McJunkin K, Miething C, et al. A pipeline for the generation of shRNA transgenic mice. Nat Protoc. 2012;7:374-93 pubmed publisher..mice that enables efficient and consistent targeting of doxycycline-regulated, fluorescence-linked shRNAs to the Col1a1 locus...
- Shinoda G, Shyh Chang N, Soysa T, Zhu H, Seligson M, Shah S, et al. Fetal deficiency of lin28 programs life-long aberrations in growth and glucose metabolism. Stem Cells. 2013;31:1563-73 pubmed publisher..Our data implicate fetal expression of Lin28a/b in the regulation of life-long effects on metabolism and growth, and demonstrate that fetal Lin28b acts at least in part via mTORC1 signaling. ..
- von Gise A, Lin Z, Schlegelmilch K, Honor L, Pan G, Buck J, et al. YAP1, the nuclear target of Hippo signaling, stimulates heart growth through cardiomyocyte proliferation but not hypertrophy. Proc Natl Acad Sci U S A. 2012;109:2394-9 pubmed publisher..Activation of Yap1 in postnatal cardiomyocytes may be a useful strategy to stimulate cardiomyocyte expansion in therapeutic myocardial regeneration. ..
- Liu C, Aschbacher Smith L, Barthelery N, Dyment N, Butler D, Wylie C. Spatial and temporal expression of molecular markers and cell signals during normal development of the mouse patellar tendon. Tissue Eng Part A. 2012;18:598-608 pubmed publisher..These data will allow both the functional analysis of specific signaling pathways in tenocyte development and their application to tissue-engineering studies in vitro. ..
- Braitsch C, Combs M, Quaggin S, Yutzey K. Pod1/Tcf21 is regulated by retinoic acid signaling and inhibits differentiation of epicardium-derived cells into smooth muscle in the developing heart. Dev Biol. 2012;368:345-57 pubmed publisher..Together, these data demonstrate a critical role for Pod1 in controlling mesenchymal progenitor cell differentiation into SM and fibroblast lineages during cardiac development...
- Blitz E, Viukov S, Sharir A, Shwartz Y, Galloway J, Pryce B, et al. Bone ridge patterning during musculoskeletal assembly is mediated through SCX regulation of Bmp4 at the tendon-skeleton junction. Dev Cell. 2009;17:861-73 pubmed publisher..This study establishes a mechanistic basis for tendon-skeleton regulatory interactions during musculoskeletal assembly and bone secondary patterning. ..
- Premsrirut P, Dow L, Kim S, Camiolo M, Malone C, Miething C, et al. A rapid and scalable system for studying gene function in mice using conditional RNA interference. Cell. 2011;145:145-58 pubmed publisher..This system provides a cost-effective and scalable platform for the production of RNAi transgenic mice targeting any mammalian gene. PAPERCLIP: ..
- Foudi A, Hochedlinger K, Van Buren D, Schindler J, Jaenisch R, Carey V, et al. Analysis of histone 2B-GFP retention reveals slowly cycling hematopoietic stem cells. Nat Biotechnol. 2009;27:84-90 pubmed publisher..8-1.8% per day). ..
- Provenzano P, Inman D, Eliceiri K, Knittel J, Yan L, Rueden C, et al. Collagen density promotes mammary tumor initiation and progression. BMC Med. 2008;6:11 pubmed publisher..Importantly, regions of high breast density are associated with increased stromal collagen. Thus, the influence of the extracellular matrix on breast carcinoma development and the underlying molecular mechanisms are not understood...
- Shyh Chang N, Zhu H, Yvanka de Soysa T, Shinoda G, Seligson M, Tsanov K, et al. Lin28 enhances tissue repair by reprogramming cellular metabolism. Cell. 2013;155:778-92 pubmed publisher..Thus, Lin28a enhances tissue repair in some adult tissues by reprogramming cellular bioenergetics. PAPERCLIP: ..
- Jacob A, Smith C, Partanen J, Ornitz D. Fibroblast growth factor receptor 1 signaling in the osteo-chondrogenic cell lineage regulates sequential steps of osteoblast maturation. Dev Biol. 2006;296:315-28 pubmed..These data demonstrate that signaling through FGFR1 in osteoblasts is necessary to maintain the balance between bone formation and remodeling through a direct effect on osteoblast maturation. ..
- Oka S, Oka K, Xu X, Sasaki T, Bringas P, Chai Y. Cell autonomous requirement for TGF-beta signaling during odontoblast differentiation and dentin matrix formation. Mech Dev. 2007;124:409-15 pubmed..5. Following kidney capsule transplantation, Tgfbr2 mutant tooth germs expressed a reduced level of Col1a1 and Dspp and exhibited defects including decreased dentin thickness and absent dentinal tubules...
- Lee H, Overall C, McCulloch C, Sodek J. A critical role for the membrane-type 1 matrix metalloproteinase in collagen phagocytosis. Mol Biol Cell. 2006;17:4812-26 pubmed..In contrast to MT1-MMP, the gelatinolytic activity of MMP-2 was not required for collagen phagocytosis. These studies demonstrate a pivotal role of catalytically active MT1-MMP in preparing collagen fibrils for phagocytic degradation. ..
- Beard C, Hochedlinger K, Plath K, Wutz A, Jaenisch R. Efficient method to generate single-copy transgenic mice by site-specific integration in embryonic stem cells. Genesis. 2006;44:23-8 pubmed..This strategy and the vectors described here are generally applicable to any locus in ES cells and should allow for the rapid production of mice with transgenes efficiently targeted to a defined site. ..
- Schlegelmilch K, Mohseni M, Kirak O, Pruszak J, Rodriguez J, Zhou D, et al. Yap1 acts downstream of ?-catenin to control epidermal proliferation. Cell. 2011;144:782-95 pubmed publisher..Together, these data identify Yap1 as a determinant of the proliferative capacity of epidermal stem cells and as an important effector of a "crowd control" molecular circuitry in mammalian skin. ..
- Zhou G, Zheng Q, Engin F, Munivez E, Chen Y, Sebald E, et al. Dominance of SOX9 function over RUNX2 during skeletogenesis. Proc Natl Acad Sci U S A. 2006;103:19004-9 pubmed..In summary, SOX9 is dominant over RUNX2 function in mesenchymal precursors that are destined for a chondrogenic lineage during endochondral ossification...
- de Frutos C, Vega S, Manzanares M, Flores J, Huertas H, Martínez Frías M, et al. Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias. Dev Cell. 2007;13:872-83 pubmed..Significantly, Snail1 is aberrantly upregulated in thanatophoric versus normal cartilages from stillborns. Thus, Snail activity may likely be considered a target for achondroplasia therapies. ..
- Nong Z, O Neil C, Lei M, Gros R, Watson A, Rizkalla A, et al. Type I collagen cleavage is essential for effective fibrotic repair after myocardial infarction. Am J Pathol. 2011;179:2189-98 pubmed publisher..To test this, we undertook coronary artery occlusion in mice with a targeted mutation (Col1a1(r/r)) that yields collagenase-resistant type I collagen...
- Kim I, Otto F, Zabel B, Mundlos S. Regulation of chondrocyte differentiation by Cbfa1. Mech Dev. 1999;80:159-70 pubmed..Our studies identify Cbfa1 as a major positive regulator of chondrocyte differentiation. ..
- Arikawa Hirasawa E, Watanabe H, Takami H, Hassell J, Yamada Y. Perlecan is essential for cartilage and cephalic development. Nat Genet. 1999;23:354-8 pubmed..Our findings suggest that these molecules affect similar signalling pathways. ..
- Hu H, Hilton M, Tu X, Yu K, Ornitz D, Long F. Sequential roles of Hedgehog and Wnt signaling in osteoblast development. Development. 2005;132:49-60 pubmed..Finally Wnt7b is identified as a potential endogenous ligand regulating osteogenesis. These data support a model that integrates Hh and Wnt signaling in the regulation of osteoblast development. ..
- Forlino A, Porter F, Lee E, Westphal H, Marini J. Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. J Biol Chem. 1999;274:37923-31 pubmed..We introduced four single nucleotide (nt) changes into murine col1a1 exon 23: the disease causing G-->T transversion (nt 1546), an adjacent G-->T change (nt 1551) to generate a ..
- Schnieke A, Harbers K, Jaenisch R. Embryonic lethal mutation in mice induced by retrovirus insertion into the alpha 1(I) collagen gene. Nature. 1983;304:315-20 pubmed..Insertion mutagenesis by retroviruses may offer a general approach to the identification and isolation of genes which are transcriptionally active during mammalian development. ..
- Stacey A, Bateman J, Choi T, Mascara T, Cole W, Jaenisch R. Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-alpha 1(I) collagen gene. Nature. 1988;332:131-6 pubmed
- Nakashima K, Zhou X, Kunkel G, Zhang Z, Deng J, Behringer R, et al. The novel zinc finger-containing transcription factor osterix is required for osteoblast differentiation and bone formation. Cell. 2002;108:17-29 pubmed..Thus, Osx acts downstream of Runx2/Cbfa1. Because Osx null preosteoblasts express typical chondrocyte marker genes, we propose that Runx2/Cbfa1-expressing preosteoblasts are still bipotential cells. ..
- Metsaranta M, Toman D, de Crombrugghe B, Vuorio E. Specific hybridization probes for mouse type I, II, III and IX collagen mRNAs. Biochim Biophys Acta. 1991;1089:241-3 pubmed..The clone for mouse alpha 1(IX) collagen covers coding sequences but is sufficiently divergent from other collagen transcripts to allow specific detection of the corresponding mRNA. ..
- Inada M, Yasui T, Nomura S, Miyake S, Deguchi K, Himeno M, et al. Maturational disturbance of chondrocytes in Cbfa1-deficient mice. Dev Dyn. 1999;214:279-90 pubmed..These findings demonstrate that Cbfa1 is an important factor for chondrocyte differentiation. ..
- Aszodi A, Chan D, Hunziker E, Bateman J, Fassler R. Collagen II is essential for the removal of the notochord and the formation of intervertebral discs. J Cell Biol. 1998;143:1399-412 pubmed
- Hansen T, Hammer N, Nielsen J, Madsen M, Dalbaeck C, Wewer U, et al. Dwarfism and impaired gut development in insulin-like growth factor II mRNA-binding protein 1-deficient mice. Mol Cell Biol. 2004;24:4448-64 pubmed..Taken together, the results demonstrate that IMP1 is essential for normal growth and development. Moreover, IMP1 may facilitate intestinal morphogenesis via regulation of extracellular matrix formation...
- Colnot C, de la Fuente L, Huang S, Hu D, Lu C, St Jacques B, et al. Indian hedgehog synchronizes skeletal angiogenesis and perichondrial maturation with cartilage development. Development. 2005;132:1057-67 pubmed
- Prockop D, Kivirikko K. Collagens: molecular biology, diseases, and potentials for therapy. Annu Rev Biochem. 1995;64:403-34 pubmed..A number of experiments suggest it may be possible to inhibit collagen synthesis with oligo-nucleotides or antisense genes. ..
- Savontaus M, Metsaranta M, Vuorio E. Mutation in type II collagen gene disturbs spinal development and gene expression patterns in transgenic Del1 mice. Lab Invest. 1997;77:591-600 pubmed..Many of these findings parallel those seen in human chondrodysplasias and help us to understand the pathogenetic mechanisms involved in these developmental abnormalities. ..
- Liu X, Wu H, Byrne M, Jeffrey J, Krane S, Jaenisch R. A targeted mutation at the known collagenase cleavage site in mouse type I collagen impairs tissue remodeling. J Cell Biol. 1995;130:227-37 pubmed..Thus, type I collagen is degraded by at least two differentially controlled mechanisms involving collagenases with distinct, but overlapping, substrate specificities. ..
- Zhao W, Byrne M, Wang Y, Krane S. Osteocyte and osteoblast apoptosis and excessive bone deposition accompany failure of collagenase cleavage of collagen. J Clin Invest. 2000;106:941-9 pubmedMice carrying a targeted mutation (r) in Col1a1, encoding a collagenase-resistant form of type I collagen, have altered skeletal remodeling...
- Smits P, Li P, Mandel J, Zhang Z, Deng J, Behringer R, et al. The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. Dev Cell. 2001;1:277-90 pubmed..L-Sox5 and Sox6 are thus redundant, potent enhancers of chondroblast functions, thereby essential for endochondral skeleton formation. ..
- Yoshida C, Yamamoto H, Fujita T, Furuichi T, Ito K, Inoue K, et al. Runx2 and Runx3 are essential for chondrocyte maturation, and Runx2 regulates limb growth through induction of Indian hedgehog. Genes Dev. 2004;18:952-63 pubmed..These findings demonstrate that Runx2 and Runx3 are essential for chondrocyte maturation and that Runx2 regulates limb growth by organizing chondrocyte maturation and proliferation through the induction of Ihh expression. ..
- Hill T, Später D, Taketo M, Birchmeier W, Hartmann C. Canonical Wnt/beta-catenin signaling prevents osteoblasts from differentiating into chondrocytes. Dev Cell. 2005;8:727-38 pubmed..Thus, canonical Wnt/beta-catenin signaling is essential for skeletal lineage differentiation, preventing transdifferentiation of osteoblastic cells into chondrocytes. ..
- Glass D, Bialek P, Ahn J, Starbuck M, Patel M, Clevers H, et al. Canonical Wnt signaling in differentiated osteoblasts controls osteoclast differentiation. Dev Cell. 2005;8:751-64 pubmed
- Khillan J, Olsen A, Kontusaari S, Sokolov B, Prockop D. Transgenic mice that express a mini-gene version of the human gene for type I procollagen (COL1A1) develop a phenotype resembling a lethal form of osteogenesis imperfecta. J Biol Chem. 1991;266:23373-9 pubmedA mini-gene version of the human gene for a pro-alpha 1(I) chain of type I procollagen (COL1A1) was prepared that contained -2...
- Zhao W, Byrne M, Boyce B, Krane S. Bone resorption induced by parathyroid hormone is strikingly diminished in collagenase-resistant mutant mice. J Clin Invest. 1999;103:517-24 pubmed..of collagenase in the bone resorptive actions of PTH, we used mice homozygous (r/r) for a targeted mutation (r) in Col1a1 that are resistant to collagenase cleavage of type I collagen...
- Rossert J, Eberspaecher H, de Crombrugghe B. Separate cis-acting DNA elements of the mouse pro-alpha 1(I) collagen promoter direct expression of reporter genes to different type I collagen-producing cells in transgenic mice. J Cell Biol. 1995;129:1421-32 pubmed..Our data also imply that other cis-acting cell-specific elements which direct activity of the gene to still other type I collagen-producing cells remain to be identified. ..
- Rhodes K, Rippe R, Umezawa A, Nehls M, Brenner D, Breindl M. DNA methylation represses the murine alpha 1(I) collagen promoter by an indirect mechanism. Mol Cell Biol. 1994;14:5950-60 pubmed
- Bialek P, Kern B, Yang X, Schrock M, Sosic D, Hong N, et al. A twist code determines the onset of osteoblast differentiation. Dev Cell. 2004;6:423-35 pubmed..In vivo mutagenesis confirms the antiosteogenic function of the Twist box. Thus, relief of inhibition by Twist proteins is a mandatory event precluding osteoblast differentiation. ..
- Wai A, Ng L, Watanabe H, Yamada Y, Tam P, Cheah K. Disrupted expression of matrix genes in the growth plate of the mouse cartilage matrix deficiency (cmd) mutant. Dev Genet. 1998;22:349-58 pubmed..The discordance of gene expression in cmd chondrocytes may be additional factors contributing to the disrupted cellular architecture of the growth plate resulting from the primary absence of aggrecan. ..
- Masuda H, Hosokawa N, Nagata K. Expression and localization of collagen-binding stress protein Hsp47 in mouse embryo development: comparison with types I and II collagen. Cell Stress Chaperones. 1998;3:256-64 pubmed..These results suggest the biological importance of Hsp47 as a collagen-specific molecular chaperone in the mouse developmental program. ..
- Zelzer E, McLean W, Ng Y, Fukai N, Reginato A, Lovejoy S, et al. Skeletal defects in VEGF(120/120) mice reveal multiple roles for VEGF in skeletogenesis. Development. 2002;129:1893-904 pubmed..We also describe new in vivo evidence for a possible role of VEGF in chondrocyte maturation, and document that VEGF has a direct role in regulating osteoblastic activity based on in vivo evidence and organ culture experiments. ..
- Cheah K, Lau E, Au P, Tam P. Expression of the mouse alpha 1(II) collagen gene is not restricted to cartilage during development. Development. 1991;111:945-53 pubmed..Type II collagen may therefore have additional roles in development unrelated to chondrogenesis. ..