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{{Infobox_gene}}
{{PBB_Controls
'''Single-minded homolog 1''' also known as '''class E basic helix-loop-helix protein 14''' (bHLHe14) is a [[protein]] that in humans is encoded by the ''SIM1'' [[gene]].<ref name="pmid9199934">{{cite journal | vauthors = Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S, Wang Y, Shimizu N, Antonarakis SE | title = Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region | journal = Genome Research | volume = 7 | issue = 6 | pages = 615–24 | date = Jun 1997 | pmid = 9199934 | pmc = 310662 | doi = 10.1101/gr.7.6.615 }}</ref><ref name="pmid11448938">{{cite journal | vauthors = Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Lévy E, Mitchell GA, Himms-Hagen J, Fan CM | title = Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus | journal = Human Molecular Genetics | volume = 10 | issue = 14 | pages = 1465–73 | date = Jul 2001 | pmid = 11448938 | pmc = | doi = 10.1093/hmg/10.14.1465 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: SIM1 single-minded homolog 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6492| accessdate = }}</ref>
| update_page = yes
| require_manual_inspection = no
| update_protein_box = yes
| update_summary = yes
| update_citations = yes
}}


<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
== Function ==
{{GNF_Protein_box
| image =
| image_source =
| PDB =
| Name = Single-minded homolog 1 (Drosophila)
| HGNCid = 10882
| Symbol = SIM1
| AltSymbols =;
| OMIM = 603128
| ECnumber = 
| Homologene = 3715
| MGIid = 98306
| GeneAtlas_image1 = PBB_GE_SIM1_206876_at_tn.png
| Function = {{GNF_GO|id=GO:0003700 |text = transcription factor activity}} {{GNF_GO|id=GO:0004871 |text = signal transducer activity}} {{GNF_GO|id=GO:0005515 |text = protein binding}} {{GNF_GO|id=GO:0046982 |text = protein heterodimerization activity}}
| Component = {{GNF_GO|id=GO:0005634 |text = nucleus}}
| Process = {{GNF_GO|id=GO:0006355 |text = regulation of transcription, DNA-dependent}} {{GNF_GO|id=GO:0007165 |text = signal transduction}} {{GNF_GO|id=GO:0007275 |text = multicellular organismal development}} {{GNF_GO|id=GO:0007399 |text = nervous system development}} {{GNF_GO|id=GO:0030154 |text = cell differentiation}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 6492
    | Hs_Ensembl = ENSG00000112246
    | Hs_RefseqProtein = NP_005059
    | Hs_RefseqmRNA = NM_005068
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 6
    | Hs_GenLoc_start = 100939606
    | Hs_GenLoc_end = 101018274
    | Hs_Uniprot = P81133
    | Mm_EntrezGene = 20464
    | Mm_Ensembl = ENSMUSG00000019913
    | Mm_RefseqmRNA = NM_011376
    | Mm_RefseqProtein = NP_035506
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 10
    | Mm_GenLoc_start = 50584066
    | Mm_GenLoc_end = 50677567
    | Mm_Uniprot = Q61045
  }}
}}
'''Single-minded homolog 1 (Drosophila)''', also known as '''SIM1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: SIM1 single-minded homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6492| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
SIM1 and [[SIM2]] genes are homologs of ''[[Drosophila melanogaster]]'' single-minded (sim), so named because cells in the midline of the sim mutant embryo fail to properly develop and eventually die, and thus the paired longitudinal axon bundles that span the [[Drosophila_embryogenesis#Anterior-posterior_axis_patterning_in_Drosophila|anterior-posterior axis]] of the embryo (analogous to the embryo's spinal cord) are collapsed into a "single" rudimentary axon bundle at the midline.  Sim is a [[basic helix-loop-helix]]-[[PAS domain]] [[transcription factor]] that regulates gene expression in the midline cells.  Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of [[neurogenesis]], it was proposed that the human SIM2 gene, which resides in a critical region of chromosome 21, is a candidate for involvement in certain dysmorphic features (particularly facial and skull characteristics), abnormalities of brain development, and/or mental retardation of [[Down syndrome]].<ref name="entrez"/>
{{PBB_Summary
| section_title =
| summary_text = SIM1 and SIM2 genes are Drosophila single-minded (sim) gene homologs.  SIM1 transcript was detected only in fetal kidney out of various adult and fetal tissues tested.  Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis,it was proposed that the human SIM gene is a candidate for involvement in certain dysmorphic features (particularly the facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome.<ref name="entrez">{{cite web | title = Entrez Gene: SIM1 single-minded homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6492| accessdate = }}</ref>
}}


==References==
== Clinical significance ==
{{reflist|2}}
 
==Further reading==
[[Haploinsufficiency]] of SIM1 has been shown to cause severe early-onset obesity in a human girl with a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2 <ref name="pmid10587584">{{cite journal | vauthors = Holder JL, Butte NF, Zinn AR | title = Profound obesity associated with a balanced translocation that disrupts the SIM1 gene | journal = Human Molecular Genetics | volume = 9 | issue = 1 | pages = 101–8 | date = Jan 2000 | pmid = 10587584 | pmc =  | doi = 10.1093/hmg/9.1.101 }}</ref> and has been suggested to cause a Prader-Willi-like phenotype in other cases.<ref name="pmid12161602">{{cite journal | vauthors = Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M | title = Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype | journal = Journal of Medical Genetics | volume = 39 | issue = 8 | pages = 594–6 | date = Aug 2002 | pmid = 12161602 | pmc = 1735217 | doi = 10.1136/jmg.39.8.594 }}</ref> Additionally, studies in mice have shown that haploinsufficieny of Sim1 causes obesity that is due to [[hyperphagia]] and do not respond properly to increased dietary fat.<ref name="pmid11448938" /><ref name="pmid14982752">{{cite journal | vauthors = Holder JL, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR | title = Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice | journal = American Journal of Physiology. Endocrinology and Metabolism | volume = 287 | issue = 1 | pages = E105-13 | date = Jul 2004 | pmid = 14982752 | pmc =  | doi = 10.1152/ajpendo.00446.2003 }}</ref> Overexpression of SIM1 protects against diet induced obesity and rescues the hyperphagia of agouti yellow mice,<ref name="pmid16709610">{{cite journal | vauthors = Kublaoui BM, Holder JL, Tolson KP, Gemelli T, Zinn AR | title = SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake | journal = Endocrinology | volume = 147 | issue = 10 | pages = 4542–9 | date = Oct 2006 | pmid = 16709610 | pmc =  | doi = 10.1210/en.2006-0453 }}</ref> who have disrupted [[melanocortin]] signaling. The obesity and hyperphagia may be mediated by impaired melanocortin activation of [[Paraventricular nucleus|PVN]] neurons <ref name="pmid16728530">{{cite journal | vauthors = Kublaoui BM, Holder JL, Gemelli T, Zinn AR | title = Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons | journal = Molecular Endocrinology | volume = 20 | issue = 10 | pages = 2483–92 | date = Oct 2006 | pmid = 16728530 | pmc =  | doi = 10.1210/me.2005-0483 }}</ref> and [[oxytocin]] deficiency in these mice.<ref name="pmid18451093">{{cite journal | vauthors = Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR | title = Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice | journal = Molecular Endocrinology | volume = 22 | issue = 7 | pages = 1723–34 | date = Jul 2008 | pmid = 18451093 | pmc = 2453606 | doi = 10.1210/me.2008-0067 }}</ref> It has been demonstrated that modulating Sim1 levels postnatally also leads to hyperphagia and obesity,<ref name="pmid20220015">{{cite journal | vauthors = Tolson KP, Gemelli T, Gautron L, Elmquist JK, Zinn AR, Kublaoui BM | title = Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression | journal = The Journal of Neuroscience | volume = 30 | issue = 10 | pages = 3803–12 | date = Mar 2010 | pmid = 20220015 | pmc = 3285557 | doi = 10.1523/JNEUROSCI.5444-09.2010 }}</ref><ref name="pmid16807340">{{cite journal | vauthors = Yang C, Gagnon D, Vachon P, Tremblay A, Levy E, Massie B, Michaud JL | title = Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake | journal = The Journal of Neuroscience | volume = 26 | issue = 26 | pages = 7116–20 | date = Jun 2006 | pmid = 16807340 | pmc =  | doi = 10.1523/JNEUROSCI.0672-06.2006 }}</ref> suggesting a physiological role for Sim1 separate from its role in development.
{{refbegin | 2}}
 
{{PBB_Further_reading
== Interactions ==
| citations =  
 
*{{cite journal | author=Fan CM, Kuwana E, Bulfone A, ''et al.'' |title=Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome. |journal=Mol. Cell. Neurosci. |volume=7 |issue= 1 |pages= 1-16 |year= 1996 |pmid= 8812055 |doi= 10.1006/mcne.1996.0001 }}
SIM1 has been shown to [[Protein-protein interaction|interact]] with [[Aryl hydrocarbon receptor nuclear translocator]].<ref name=pmid9020169>{{cite journal | vauthors = Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O | title = Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein | journal = The Journal of Biological Chemistry | volume = 272 | issue = 7 | pages = 4451–7 | date = Feb 1997 | pmid = 9020169 | doi = 10.1074/jbc.272.7.4451 }}</ref><ref name=pmid11782478>{{cite journal | vauthors = Woods SL, Whitelaw ML | title = Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors | journal = The Journal of Biological Chemistry | volume = 277 | issue = 12 | pages = 10236–43 | date = Mar 2002 | pmid = 11782478 | doi = 10.1074/jbc.M110752200 }}</ref>
*{{cite journal | author=Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O |title=Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein. |journal=J. Biol. Chem. |volume=272 |issue= 7 |pages= 4451-7 |year= 1997 |pmid= 9020169 |doi= }}
 
*{{cite journal | author=Chrast R, Scott HS, Chen H, ''et al.'' |title=Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region. |journal=Genome Res. |volume=7 |issue= 6 |pages= 615-24 |year= 1997 |pmid= 9199934 |doi= }}
== References ==
*{{cite journal | author=Holder JL, Butte NF, Zinn AR |title=Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. |journal=Hum. Mol. Genet. |volume=9 |issue= 1 |pages= 101-8 |year= 2000 |pmid= 10587584 |doi= }}
{{reflist|33em}}
*{{cite journal | author=Hartley JL, Temple GF, Brasch MA |title=DNA cloning using in vitro site-specific recombination. |journal=Genome Res. |volume=10 |issue= 11 |pages= 1788-95 |year= 2001 |pmid= 11076863 |doi= }}
 
*{{cite journal  | author=Michaud JL, Boucher F, Melnyk A, ''et al.'' |title=Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus. |journal=Hum. Mol. Genet. |volume=10 |issue= 14 |pages= 1465-73 |year= 2001 |pmid= 11448938 |doi=  }}
== Further reading ==
*{{cite journal | author=Woods SL, Whitelaw ML |title=Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors. |journal=J. Biol. Chem. |volume=277 |issue= 12 |pages= 10236-43 |year= 2002 |pmid= 11782478 |doi= 10.1074/jbc.M110752200 }}
{{refbegin|33em}}
*{{cite journal | author=Faivre L, Cormier-Daire V, Lapierre JM, ''et al.'' |title=Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. |journal=J. Med. Genet. |volume=39 |issue= 8 |pages= 594-6 |year= 2002 |pmid= 12161602 |doi=  }}
* {{cite journal | vauthors = Fan CM, Kuwana E, Bulfone A, Fletcher CF, Copeland NG, Jenkins NA, Crews S, Martinez S, Puelles L, Rubenstein JL, Tessier-Lavigne M | title = Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome | journal = Molecular and Cellular Neurosciences | volume = 7 | issue = 1 | pages = 1–16 | date = Jan 1996 | pmid = 8812055 | doi = 10.1006/mcne.1996.0001 }}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
* {{cite journal | vauthors = Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O | title = Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein | journal = The Journal of Biological Chemistry | volume = 272 | issue = 7 | pages = 4451–7 | date = Feb 1997 | pmid = 9020169 | doi = 10.1074/jbc.272.7.4451 }}
*{{cite journal  | author=Mungall AJ, Palmer SA, Sims SK, ''et al.'' |title=The DNA sequence and analysis of human chromosome 6. |journal=Nature |volume=425 |issue= 6960 |pages= 805-11 |year= 2003 |pmid= 14574404 |doi= 10.1038/nature02055 }}
* {{cite journal | vauthors = Holder JL, Butte NF, Zinn AR | title = Profound obesity associated with a balanced translocation that disrupts the SIM1 gene | journal = Human Molecular Genetics | volume = 9 | issue = 1 | pages = 101–8 | date = Jan 2000 | pmid = 10587584 | doi = 10.1093/hmg/9.1.101 }}
*{{cite journal | author=Yamaki A, Kudoh J, Shimizu N, Shimizu Y |title=A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2. |journal=Biochem. Biophys. Res. Commun. |volume=313 |issue= 3 |pages= 482-8 |year= 2004 |pmid= 14697214 |doi= }}
* {{cite journal | vauthors = Hartley JL, Temple GF, Brasch MA | title = DNA cloning using in vitro site-specific recombination | journal = Genome Research | volume = 10 | issue = 11 | pages = 1788–95 | date = Nov 2000 | pmid = 11076863 | pmc = 310948 | doi = 10.1101/gr.143000 }}
*{{cite journal | author=Meyre D, Lecoeur C, Delplanque J, ''et al.'' |title=A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2. |journal=Diabetes |volume=53 |issue= 3 |pages= 803-11 |year= 2004 |pmid= 14988267 |doi= }}
* {{cite journal | vauthors = Woods SL, Whitelaw ML | title = Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors | journal = The Journal of Biological Chemistry | volume = 277 | issue = 12 | pages = 10236–43 | date = Mar 2002 | pmid = 11782478 | doi = 10.1074/jbc.M110752200 }}
*{{cite journal | author=Kublaoui BM, Holder JL, Tolson KP, ''et al.'' |title=SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake. |journal=Endocrinology |volume=147 |issue= 10 |pages= 4542-9 |year= 2006 |pmid= 16709610 |doi= 10.1210/en.2006-0453 }}
* {{cite journal | vauthors = Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M | title = Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype | journal = Journal of Medical Genetics | volume = 39 | issue = 8 | pages = 594–6 | date = Aug 2002 | pmid = 12161602 | pmc = 1735217 | doi = 10.1136/jmg.39.8.594 }}
}}
* {{cite journal | vauthors = Yamaki A, Kudoh J, Shimizu N, Shimizu Y | title = A novel nuclear localization signal in the human single-minded proteins SIM1 and SIM2 | journal = Biochemical and Biophysical Research Communications | volume = 313 | issue = 3 | pages = 482–8 | date = Jan 2004 | pmid = 14697214 | doi = 10.1016/j.bbrc.2003.11.168 }}
* {{cite journal | vauthors = Meyre D, Lecoeur C, Delplanque J, Francke S, Vatin V, Durand E, Weill J, Dina C, Froguel P | title = A genome-wide scan for childhood obesity-associated traits in French families shows significant linkage on chromosome 6q22.31-q23.2 | journal = Diabetes | volume = 53 | issue = 3 | pages = 803–11 | date = Mar 2004 | pmid = 14988267 | doi = 10.2337/diabetes.53.3.803 }}
* {{cite journal | vauthors = Kublaoui BM, Holder JL, Tolson KP, Gemelli T, Zinn AR | title = SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake | journal = Endocrinology | volume = 147 | issue = 10 | pages = 4542–9 | date = Oct 2006 | pmid = 16709610 | doi = 10.1210/en.2006-0453 }}
{{refend}}
{{refend}}


{{protein-stub}}
{{Transcription factors|g1}}
{{WikiDoc Sources}}
 
[[Category:PAS-domain-containing proteins]]

Latest revision as of 17:37, 30 October 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Single-minded homolog 1 also known as class E basic helix-loop-helix protein 14 (bHLHe14) is a protein that in humans is encoded by the SIM1 gene.[1][2][3]

Function

SIM1 and SIM2 genes are homologs of Drosophila melanogaster single-minded (sim), so named because cells in the midline of the sim mutant embryo fail to properly develop and eventually die, and thus the paired longitudinal axon bundles that span the anterior-posterior axis of the embryo (analogous to the embryo's spinal cord) are collapsed into a "single" rudimentary axon bundle at the midline. Sim is a basic helix-loop-helix-PAS domain transcription factor that regulates gene expression in the midline cells. Since the sim gene plays an important role in Drosophila development and has peak levels of expression during the period of neurogenesis, it was proposed that the human SIM2 gene, which resides in a critical region of chromosome 21, is a candidate for involvement in certain dysmorphic features (particularly facial and skull characteristics), abnormalities of brain development, and/or mental retardation of Down syndrome.[3]

Clinical significance

Haploinsufficiency of SIM1 has been shown to cause severe early-onset obesity in a human girl with a de novo balanced translocation between chromosomes 1p22.1 and 6q16.2 [4] and has been suggested to cause a Prader-Willi-like phenotype in other cases.[5] Additionally, studies in mice have shown that haploinsufficieny of Sim1 causes obesity that is due to hyperphagia and do not respond properly to increased dietary fat.[2][6] Overexpression of SIM1 protects against diet induced obesity and rescues the hyperphagia of agouti yellow mice,[7] who have disrupted melanocortin signaling. The obesity and hyperphagia may be mediated by impaired melanocortin activation of PVN neurons [8] and oxytocin deficiency in these mice.[9] It has been demonstrated that modulating Sim1 levels postnatally also leads to hyperphagia and obesity,[10][11] suggesting a physiological role for Sim1 separate from its role in development.

Interactions

SIM1 has been shown to interact with Aryl hydrocarbon receptor nuclear translocator.[12][13]

References

  1. ↑ Chrast R, Scott HS, Chen H, Kudoh J, Rossier C, Minoshima S, Wang Y, Shimizu N, Antonarakis SE (Jun 1997). "Cloning of two human homologs of the Drosophila single-minded gene SIM1 on chromosome 6q and SIM2 on 21q within the Down syndrome chromosomal region". Genome Research. 7 (6): 615–24. doi:10.1101/gr.7.6.615. PMC 310662. PMID 9199934.
  2. ↑ 2.0 2.1 Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Lévy E, Mitchell GA, Himms-Hagen J, Fan CM (Jul 2001). "Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus". Human Molecular Genetics. 10 (14): 1465–73. doi:10.1093/hmg/10.14.1465. PMID 11448938.
  3. ↑ 3.0 3.1 "Entrez Gene: SIM1 single-minded homolog 1 (Drosophila)".
  4. ↑ Holder JL, Butte NF, Zinn AR (Jan 2000). "Profound obesity associated with a balanced translocation that disrupts the SIM1 gene". Human Molecular Genetics. 9 (1): 101–8. doi:10.1093/hmg/9.1.101. PMID 10587584.
  5. ↑ Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Geneviéve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M (Aug 2002). "Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype". Journal of Medical Genetics. 39 (8): 594–6. doi:10.1136/jmg.39.8.594. PMC 1735217. PMID 12161602.
  6. ↑ Holder JL, Zhang L, Kublaoui BM, DiLeone RJ, Oz OK, Bair CH, Lee YH, Zinn AR (Jul 2004). "Sim1 gene dosage modulates the homeostatic feeding response to increased dietary fat in mice". American Journal of Physiology. Endocrinology and Metabolism. 287 (1): E105–13. doi:10.1152/ajpendo.00446.2003. PMID 14982752.
  7. ↑ Kublaoui BM, Holder JL, Tolson KP, Gemelli T, Zinn AR (Oct 2006). "SIM1 overexpression partially rescues agouti yellow and diet-induced obesity by normalizing food intake". Endocrinology. 147 (10): 4542–9. doi:10.1210/en.2006-0453. PMID 16709610.
  8. ↑ Kublaoui BM, Holder JL, Gemelli T, Zinn AR (Oct 2006). "Sim1 haploinsufficiency impairs melanocortin-mediated anorexia and activation of paraventricular nucleus neurons". Molecular Endocrinology. 20 (10): 2483–92. doi:10.1210/me.2005-0483. PMID 16728530.
  9. ↑ Kublaoui BM, Gemelli T, Tolson KP, Wang Y, Zinn AR (Jul 2008). "Oxytocin deficiency mediates hyperphagic obesity of Sim1 haploinsufficient mice". Molecular Endocrinology. 22 (7): 1723–34. doi:10.1210/me.2008-0067. PMC 2453606. PMID 18451093.
  10. ↑ Tolson KP, Gemelli T, Gautron L, Elmquist JK, Zinn AR, Kublaoui BM (Mar 2010). "Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression". The Journal of Neuroscience. 30 (10): 3803–12. doi:10.1523/JNEUROSCI.5444-09.2010. PMC 3285557. PMID 20220015.
  11. ↑ Yang C, Gagnon D, Vachon P, Tremblay A, Levy E, Massie B, Michaud JL (Jun 2006). "Adenoviral-mediated modulation of Sim1 expression in the paraventricular nucleus affects food intake". The Journal of Neuroscience. 26 (26): 7116–20. doi:10.1523/JNEUROSCI.0672-06.2006. PMID 16807340.
  12. ↑ Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O (Feb 1997). "Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein". The Journal of Biological Chemistry. 272 (7): 4451–7. doi:10.1074/jbc.272.7.4451. PMID 9020169.
  13. ↑ Woods SL, Whitelaw ML (Mar 2002). "Differential activities of murine single minded 1 (SIM1) and SIM2 on a hypoxic response element. Cross-talk between basic helix-loop-helix/per-Arnt-Sim homology transcription factors". The Journal of Biological Chemistry. 277 (12): 10236–43. doi:10.1074/jbc.M110752200. PMID 11782478.

Further reading

  • Fan CM, Kuwana E, Bulfone A, Fletcher CF, Copeland NG, Jenkins NA, Crews S, Martinez S, Puelles L, Rubenstein JL, Tessier-Lavigne M (Jan 1996). "Expression patterns of two murine homologs of Drosophila single-minded suggest possible roles in embryonic patterning and in the pathogenesis of Down syndrome". Molecular and Cellular Neurosciences. 7 (1): 1–16. doi:10.1006/mcne.1996.0001. PMID 8812055.
  • Probst MR, Fan CM, Tessier-Lavigne M, Hankinson O (Feb 1997). "Two murine homologs of the Drosophila single-minded protein that interact with the mouse aryl hydrocarbon receptor nuclear translocator protein". The Journal of Biological Chemistry. 272 (7): 4451–7. doi:10.1074/jbc.272.7.4451. PMID 9020169.
  • Holder JL, Butte NF, Zinn AR (Jan 2000). "Profound obesity associated with a balanced translocation that disrupts the SIM1 gene". Human Molecular Genetics. 9 (1): 101–8. doi:10.1093/hmg/9.1.101. PMID 10587584.
  • Hartley JL, Temple GF, Brasch MA (Nov 2000). "DNA cloning using in vitro site-specific recombination". Genome Research. 10 (11): 1788–95. doi:10.1101/gr.143000. PMC 310948. PMID 11076863.
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