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ELOVL4

{{Short description|Protein-coding gene in the species Homo sapiens}}

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{{Infobox_gene}}

Elongation of very long chain fatty acids protein 4 is a protein that in humans is encoded by the ELOVL4 gene.{{cite journal | vauthors = Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K | title = A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy | journal = Nature Genetics| volume = 27 | issue = 1 | pages = 89–93 |date=Jan 2001 | pmid = 11138005 | doi = 10.1038/83817 | s2cid = 23672516 }}{{cite web | title = Entrez Gene: ELOVL4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6785}}

ELOVL4 is a member of a large family of fatty acid elongases (ELO) that catalyzes the rate-limiting step in the elongation of long chain fatty acids (LC-FA) into very long-chain saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids, collectively known as VLC-FA (very long chain fatty acid).{{Cite journal |last1=Agbaga |first1=Martin-Paul |last2=Brush |first2=Richard S. |last3=Mandal |first3=Md Nawajes A. |last4=Henry |first4=Kimberly |last5=Elliott |first5=Michael H. |last6=Anderson |first6=Robert E. |date=2008-09-02 |title=Role of Stargardt-3 macular dystrophy protein (ELOVL4) in the biosynthesis of very long chain fatty acids |journal=Proceedings of the National Academy of Sciences of the United States of America |volume=105 |issue=35 |pages=12843–12848 |doi=10.1073/pnas.0802607105 |issn=1091-6490 |pmc=2525561 |pmid=18728184|bibcode=2008PNAS..10512843A |doi-access=free }}{{Cite journal |last1=Vasireddy |first1=Vidyullatha |last2=Uchida |first2=Yoshikazu |last3=Salem |first3=Norman |last4=Kim |first4=Soo Yeon |last5=Mandal |first5=Md Nawajesh Ali |last6=Reddy |first6=Geereddy Bhanuprakash |last7=Bodepudi |first7=Ravi |last8=Alderson |first8=Nathan L. |last9=Brown |first9=Johnie C. |last10=Hama |first10=Hiroko |last11=Dlugosz |first11=Andrzej |date=2007-03-01 |title=Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death |journal=Human Molecular Genetics |volume=16 |issue=5 |pages=471–482 |doi=10.1093/hmg/ddl480 |issn=0964-6906 |pmc=1839956 |pmid=17208947}} ELOVL4 and its products are found in the brain, skin, retina, meibomian glands, testes and sperm.{{Cite journal |last1=Yeboah |first1=Gyening Kofi |last2=Lobanova |first2=Ekaterina S. |last3=Brush |first3=Richard S. |last4=Agbaga |first4=Martin-Paul |date=2021 |title=Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4 |journal=Journal of Lipid Research |volume=62 |pages=100030 |doi=10.1016/j.jlr.2021.100030 |doi-access=free |pmid=33556440 |pmc=8042400 |issn=0022-2275}}{{Cite journal |last1=Bennett |first1=Lea D. |last2=Brush |first2=Richard S. |last3=Chan |first3=Michael |last4=Lydic |first4=Todd A. |last5=Reese |first5=Kristen |last6=Reid |first6=Gavin E. |last7=Busik |first7=Julia V. |last8=Elliott |first8=Michael H. |last9=Anderson |first9=Robert E. |date=2014-04-10 |title=Effect of reduced retinal VLC-PUFA on rod and cone photoreceptors |journal=Investigative Ophthalmology & Visual Science |volume=55 |issue=5 |pages=3150–3157 |doi=10.1167/iovs.14-13995 |issn=1552-5783 |pmc=4027810 |pmid=24722693}}{{Cite journal |last1=Craig |first1=LaTasha B. |last2=Brush |first2=Richard S. |last3=Sullivan |first3=Michael T. |last4=Zavy |first4=Michael T. |last5=Agbaga |first5=Martin-Paul |last6=Anderson |first6=Robert E. |date=July 2019 |title=Decreased very long chain polyunsaturated fatty acids in sperm correlates with sperm quantity and quality |journal=Journal of Assisted Reproduction and Genetics |volume=36 |issue=7 |pages=1379–1385 |doi=10.1007/s10815-019-01464-3 |issn=1573-7330 |pmc=6642247 |pmid=31073727}}{{Cite journal |last1=Vasireddy |first1=Vidyullatha |last2=Uchida |first2=Yoshikazu |last3=Salem |first3=Norman |last4=Kim |first4=Soo Yeon |last5=Mandal |first5=Md Nawajesh Ali |last6=Reddy |first6=Geereddy Bhanuprakash |last7=Bodepudi |first7=Ravi |last8=Alderson |first8=Nathan L. |last9=Brown |first9=Johnie C. |last10=Hama |first10=Hiroko |last11=Dlugosz |first11=Andrzej |date=2007-03-01 |title=Loss of functional ELOVL4 depletes very long-chain fatty acids (> or =C28) and the unique omega-O-acylceramides in skin leading to neonatal death |journal=Human Molecular Genetics |volume=16 |issue=5 |pages=471–482 |doi=10.1093/hmg/ddl480 |issn=0964-6906 |pmc=1839956 |pmid=17208947}}{{Cite journal |last=Butovich |first=Igor A. |date=March 2009 |title=Cholesteryl esters as a depot for very long chain fatty acids in human meibum |journal=Journal of Lipid Research |volume=50 |issue=3 |pages=501–513 |doi=10.1194/jlr.M800426-JLR200 |doi-access=free |issn=0022-2275 |pmc=2638107 |pmid=18836212}}{{Cite journal |last1=McMahon |first1=Anne |last2=Lu |first2=Hua |last3=Butovich |first3=Igor A. |date=2014-05-01 |title=A role for ELOVL4 in the mouse meibomian gland and sebocyte cell biology |journal=Investigative Ophthalmology & Visual Science |volume=55 |issue=5 |pages=2832–2840 |doi=10.1167/iovs.13-13335 |issn=1552-5783 |pmc=4008046 |pmid=24677106}}{{Cite journal |last1=Hopiavuori |first1=Blake R. |last2=Deák |first2=Ferenc |last3=Wilkerson |first3=Joseph L. |last4=Brush |first4=Richard S. |last5=Rocha-Hopiavuori |first5=Nicole A. |last6=Hopiavuori |first6=Austin R. |last7=Ozan |first7=Kathryn G. |last8=Sullivan |first8=Michael T. |last9=Wren |first9=Jonathan D. |last10=Georgescu |first10=Constantin |last11=Szweda |first11=Luke |date=February 2018 |title=Homozygous Expression of Mutant ELOVL4 Leads to Seizures and Death in a Novel Animal Model of Very Long-Chain Fatty Acid Deficiency |journal=Molecular Neurobiology |volume=55 |issue=2 |pages=1795–1813 |doi=10.1007/s12035-017-0824-8 |issn=1559-1182 |pmc=5820379 |pmid=29168048}} Known mutations of ELOVL4 in humans cause diseases such as Autosomal Dominant Stargardt-like Macular Dystrophy (STGD3), spinocerebellar ataxia-34 (SCA34), skin deformities and seizures.{{Cite journal |last1=Yeboah |first1=Gyening Kofi |last2=Lobanova |first2=Ekaterina S. |last3=Brush |first3=Richard S. |last4=Agbaga |first4=Martin-Paul |date=2021 |title=Very long chain fatty acid-containing lipids: a decade of novel insights from the study of ELOVL4 |journal=Journal of Lipid Research |volume=62 |pages=100030 |doi=10.1016/j.jlr.2021.100030 |doi-access=free |issn=1539-7262 |pmc=8042400 |pmid=33556440}}{{Cite journal |last1=Zhang |first1=K. |last2=Kniazeva |first2=M. |last3=Han |first3=M. |last4=Li |first4=W. |last5=Yu |first5=Z. |last6=Yang |first6=Z. |last7=Li |first7=Y. |last8=Metzker |first8=M. L. |last9=Allikmets |first9=R. |last10=Zack |first10=D. J. |last11=Kakuk |first11=L. E. |date=January 2001 |title=A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy |url=https://pubmed.ncbi.nlm.nih.gov/11138005 |journal=Nature Genetics |volume=27 |issue=1 |pages=89–93 |doi=10.1038/83817 |issn=1061-4036 |pmid=11138005|s2cid=23672516 }}{{Cite journal |last1=Bernstein |first1=P. S. |last2=Tammur |first2=J. |last3=Singh |first3=N. |last4=Hutchinson |first4=A. |last5=Dixon |first5=M. |last6=Pappas |first6=C. M. |last7=Zabriskie |first7=N. A. |last8=Zhang |first8=K. |last9=Petrukhin |first9=K. |last10=Leppert |first10=M. |last11=Allikmets |first11=R. |date=December 2001 |title=Diverse macular dystrophy phenotype caused by a novel complex mutation in the ELOVL4 gene |url=https://pubmed.ncbi.nlm.nih.gov/11726641 |journal=Investigative Ophthalmology & Visual Science |volume=42 |issue=13 |pages=3331–3336 |issn=0146-0404 |pmid=11726641}}{{Cite journal |last1=Maugeri |first1=Alessandra |last2=Meire |first2=Francoise |last3=Hoyng |first3=Carel B. |last4=Vink |first4=Carolien |last5=Van Regemorter |first5=Nicole |last6=Karan |first6=Goutam |last7=Yang |first7=Zhenglin |last8=Cremers |first8=Frans P. M. |last9=Zhang |first9=Kang |date=December 2004 |title=A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy |journal=Investigative Ophthalmology & Visual Science |volume=45 |issue=12 |pages=4263–4267 |doi=10.1167/iovs.04-0078 |issn=0146-0404 |pmid=15557430|doi-access=free }}{{Cite journal |last1=Cadieux-Dion |first1=Maxime |last2=Turcotte-Gauthier |first2=Maude |last3=Noreau |first3=Anne |last4=Martin |first4=Caroline |last5=Meloche |first5=Caroline |last6=Gravel |first6=Micheline |last7=Drouin |first7=Christian Allen |last8=Rouleau |first8=Guy A. |last9=Nguyen |first9=Dang Khoa |last10=Cossette |first10=Patrick |date=April 2014 |title=Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia |url=https://pubmed.ncbi.nlm.nih.gov/24566826 |journal=JAMA Neurology |volume=71 |issue=4 |pages=470–475 |doi=10.1001/jamaneurol.2013.6337 |issn=2168-6157 |pmid=24566826}}{{Cite journal |last1=Ozaki |first1=Kokoro |last2=Doi |first2=Hiroshi |last3=Mitsui |first3=Jun |last4=Sato |first4=Nozomu |last5=Iikuni |first5=Yoichiro |last6=Majima |first6=Takamasa |last7=Yamane |first7=Kiyomi |last8=Irioka |first8=Takashi |last9=Ishiura |first9=Hiroyuki |last10=Doi |first10=Koichiro |last11=Morishita |first11=Shinichi |date=July 2015 |title=A Novel Mutation in ELOVL4 Leading to Spinocerebellar Ataxia (SCA) With the Hot Cross Bun Sign but Lacking Erythrokeratodermia: A Broadened Spectrum of SCA34 |journal=JAMA Neurology |volume=72 |issue=7 |pages=797–805 |doi=10.1001/jamaneurol.2015.0610 |issn=2168-6157 |pmid=26010696|s2cid=6416150 |doi-access=free }}{{Cite journal |last1=Bourassa |first1=Cynthia V. |last2=Raskin |first2=Salmo |last3=Serafini |first3=Sérgio |last4=Teive |first4=Hélio A. G. |last5=Dion |first5=Patrick A. |last6=Rouleau |first6=Guy A. |date=August 2015 |title=A New ELOVL4 Mutation in a Case of Spinocerebellar Ataxia With Erythrokeratodermia |url=https://pubmed.ncbi.nlm.nih.gov/26258735 |journal=JAMA Neurology |volume=72 |issue=8 |pages=942–943 |doi=10.1001/jamaneurol.2015.0888 |issn=2168-6157 |pmid=26258735}}{{Cite journal |last1=Bourque |first1=Pierre R. |last2=Warman-Chardon |first2=Jodi |last3=Lelli |first3=Daniel A. |last4=LaBerge |first4=Lauren |last5=Kirshen |first5=Carly |last6=Bradshaw |first6=Scott H. |last7=Hartley |first7=Taila |last8=Boycott |first8=Kym M. |date=August 2018 |title=Novel ELOVL4 mutation associated with erythrokeratodermia and spinocerebellar ataxia (SCA 34) |journal=Neurology. Genetics |volume=4 |issue=4 |pages=e263 |doi=10.1212/NXG.0000000000000263 |issn=2376-7839 |pmc=6066365 |pmid=30065956}}{{Cite journal |last1=Xiao |first1=Changrui |last2=Binkley |first2=Elaine M. |last3=Rexach |first3=Jessica |last4=Knight-Johnson |first4=Amy |last5=Khemani |first5=Pravin |last6=Fogel |first6=Brent L. |last7=Das |first7=Soma |last8=Stone |first8=Edwin M. |last9=Gomez |first9=Christopher M. |date=October 2019 |title=A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation |journal=Neurology. Genetics |volume=5 |issue=5 |pages=e357 |doi=10.1212/NXG.0000000000000357 |issn=2376-7839 |pmc=6812731 |pmid=31750392}}{{Cite journal |last1=Beaudin |first1=Marie |last2=Sellami |first2=Leila |last3=Martel |first3=Christian |last4=Touzel-Deschênes |first4=Lydia |last5=Houle |first5=Gabrielle |last6=Martineau |first6=Laurence |last7=Lacroix |first7=Kevin |last8=Lavallée |first8=Andréane |last9=Chrestian |first9=Nicolas |last10=Rouleau |first10=Guy A. |last11=Gros-Louis |first11=François |date=April 2020 |title=Characterization of the phenotype with cognitive impairment and protein mislocalization in SCA34 |journal=Neurology. Genetics |volume=6 |issue=2 |pages=e403 |doi=10.1212/NXG.0000000000000403 |issn=2376-7839 |pmc=7073455 |pmid=32211516}}

See also

References

{{reflist}}

Further reading

{{refbegin | 2}}

  • {{cite journal | author=Zhang K |title=A dominant Stargardt's macular dystrophy locus maps to chromosome 13q34 |journal= Archives of Ophthalmology|volume=112 |issue= 6 |pages= 759–64 |year= 1994 |pmid= 8002833 |doi= 10.1001/archopht.1994.01090180057035| author2=Bither PP | author3=Park R | last4=Donoso | first4=LA | last5=Seidman | first5=JG | last6=Seidman | first6=CE |s2cid=23396964 }}
  • {{cite journal | author=Stone EM |title=Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q |journal= Archives of Ophthalmology|volume=112 |issue= 6 |pages= 765–72 |year= 1994 |pmid= 8002834 |doi= 10.1001/archopht.1994.01090180063036| author2=Nichols BE | author3=Kimura AE | last4=Weingeist | first4=TA | last5=Drack | first5=A | last6=Sheffield | first6=VC }}
  • {{cite journal | author=Edwards AO |title=Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14 |journal= American Journal of Ophthalmology|volume=127 |issue= 4 |pages= 426–35 |year= 1999 |pmid= 10218695 |doi=10.1016/S0002-9394(98)00331-6 | author2=Miedziak A | author3=Vrabec T | last4=Verhoeven | first4=Janneke | last5=Acott | first5=Ted S | last6=Weleber | first6=Richard G | last7=Donoso | first7=Larry A }}
  • {{cite journal | author=Li Y |title=Evaluation of the ELOVL4 gene in families with retinitis pigmentosa linked to the RP25 locus |journal= Journal of Medical Genetics|volume=38 |issue= 7 |pages= 478–80 |year= 2001 |pmid= 11474659 |doi=10.1136/jmg.38.7.478 | pmc=1757187 | author2=Marcos I | author3=Borrego S | last4=Yu | first4=Z | last5=Zhang | first5=K | last6=Antiñolo | first6=G }}
  • {{cite journal | vauthors=Edwards AO, Donoso LA, Ritter R |title=A novel gene for autosomal dominant Stargardt-like macular dystrophy with homology to the SUR4 protein family |journal= Investigative Ophthalmology & Visual Science|volume=42 |issue= 11 |pages= 2652–63 |year= 2001 |pmid= 11581213 }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal= Proceedings of the National Academy of Sciences|volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | author2=Feingold EA | author3=Grouse LH | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal | author=Rivolta C |title=Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis |journal= Molecular Vision|volume=9 |pages= 49–51 |year= 2003 |pmid= 12592226 | author2=Ayyagari R | author3=Sieving PA | last4=Berson | first4=EL | last5=Dryja | first5=TP }}
  • {{cite journal | author=Lagali PS |title=Evolutionarily conserved ELOVL4 gene expression in the vertebrate retina |journal= Investigative Ophthalmology & Visual Science|volume=44 |issue= 7 |pages= 2841–50 |year= 2003 |pmid= 12824221 |doi=10.1167/iovs.02-0991 | author2=Liu J | author3=Ambasudhan R | last4=Kakuk | first4=LE | last5=Bernstein | first5=SL | last6=Seigel | first6=GM | last7=Wong | first7=PW | last8=Ayyagari | first8=R | doi-access=free }}
  • {{cite journal | author=Vrabec TR |title=Autosomal dominant Stargardt-like macular dystrophy: identification of a new family with a mutation in the ELOVL4 gene |journal= American Journal of Ophthalmology|volume=136 |issue= 3 |pages= 542–5 |year= 2003 |pmid= 12967813 |doi=10.1016/S0002-9394(03)00227-7 | author2=Tantri A | author3=Edwards A | last4=Frost | first4=Arcilee | last5=Donoso | first5=Larry A. }}
  • {{cite journal | author=Mungall AJ |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 | author2=Palmer SA | author3=Sims SK | last4=Edwards | first4=C. A. | last5=Ashurst | first5=J. L. | last6=Wilming | first6=L. | last7=Jones | first7=M. C. | last8=Horton | first8=R. | last9=Hunt | first9=S. E. |bibcode=2003Natur.425..805M | doi-access=free }}
  • {{cite journal | author=Ota T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal= Nature Genetics|volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 | author2=Suzuki Y | author3=Nishikawa T | last4=Otsuki | first4=Tetsuji | last5=Sugiyama | first5=Tomoyasu | last6=Irie | first6=Ryotaro | last7=Wakamatsu | first7=Ai | last8=Hayashi | first8=Koji | last9=Sato | first9=Hiroyuki | doi-access=free }}
  • {{cite journal | author=Ambasudhan R |title=Atrophic macular degeneration mutations in ELOVL4 result in the intracellular misrouting of the protein |journal=Genomics |volume=83 |issue= 4 |pages= 615–25 |year= 2004 |pmid= 15028284 |doi= 10.1016/j.ygeno.2003.10.004 | author2=Wang X | author3=Jablonski MM | last4=Thompson | first4=Debra A | last5=Lagali | first5=Pamela S | last6=Wong | first6=Paul W | last7=Sieving | first7=Paul A | last8=Ayyagari | first8=Radha }}
  • {{cite journal | author=Gerhard DS |title=The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC) |journal= Genome Research|volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 | author2=Wagner L | author3=Feingold EA | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal | vauthors=Grayson C, Molday RS |title=Dominant negative mechanism underlies autosomal dominant Stargardt-like macular dystrophy linked to mutations in ELOVL4 |journal= Journal of Biological Chemistry|volume=280 |issue= 37 |pages= 32521–30 |year= 2005 |pmid= 16036915 |doi= 10.1074/jbc.M503411200 |doi-access= free }}
  • {{cite journal | author=Lai Z |title=Evaluation of the ELOVL4 gene in a Chinese family with autosomal dominant STGD3-like macular dystrophy |journal= Journal of Cellular and Molecular Medicine|volume=9 |issue= 4 |pages= 961–5 |year= 2006 |pmid= 16364203 |doi=10.1111/j.1582-4934.2005.tb00392.x | author2=Zhang XN | author3=Zhou W | last4=Yu | first4=Rui | last5=Le | first5=Yan-Ping |pmc=6740257|doi-access=free}}
  • {{cite journal | author=Hubbard AF |title=Association of adipose and red blood cell lipids with severity of dominant Stargardt macular dystrophy (STGD3) secondary to an ELOVL4 mutation |journal= Archives of Ophthalmology|volume=124 |issue= 2 |pages= 257–63 |year= 2006 |pmid= 16476896 |doi= 10.1001/archopht.124.2.257 | author2=Askew EW | author3=Singh N | last4=Leppert | first4=M | last5=Bernstein | first5=PS |doi-access=free }}
  • {{cite journal | author=Seitsonen S |title=Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population |journal= Molecular Vision|volume=12 |pages= 796–801 |year= 2006 |pmid= 16885922 | author2=Lemmelä S | author3=Holopainen J | last4=Tommila | first4=P | last5=Ranta | first5=P | last6=Kotamies | first6=A | last7=Moilanen | first7=J | last8=Palosaari | first8=T | last9=Kaarniranta | first9=K }}
  • {{cite journal |title=Retinal pathology and skin barrier defect in mice carrying a Stargardt disease-3 mutation in elongase of very long chain fatty acids-4 |journal= Molecular Vision|volume=13 |pages= 258–72 |year= 2007 |pmid= 17356513 | pmc=2633486 | vauthors=McMahon A, Butovich IA, Mata NL, Klein M, Ritter R, Richardson J, Birch DG, Edwards AO, Kedzierski W}}

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Category:Long stubs with short prose

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