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Genes2019; 10(10); 826; doi: 10.3390/genes10100826

Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies.

Abstract: Mushroom is a unique coat color phenotype in Shetland Ponies characterized by the dilution of the chestnut coat color to a sepia tone and is hypothesized to be a recessive trait. A genome wide association study (GWAS), utilizing the Affymetrix 670K array (MNEc670k) and a single locus mixed linear model analysis (EMMAX), identified a locus on ECA7 for further investigation ( = 2.08 × 10). This locus contained a 3 Mb run of homozygosity in the 12 mushroom ponies tested. Analysis of high throughput Illumina sequencing data from one mushroom Shetland pony compared to 87 genomes from horses of various breeds, uncovered a frameshift variant, p.Asp201fs, in the gene encoding the major facilitator superfamily domain containing 12 protein. This variant was perfectly concordant with phenotype in 96 Shetland Ponies ( = 1.15 × 10), was identified in the closely related Miniature Horse for which the mushroom phenotype is suspected to occur (f = 0.02), and was absent in 252 individuals from seven additional breeds not reported to have the mushroom phenotype. is highly expressed in melanocytes and variants in this gene in humans, mice, and dogs impact pigmentation. Given the role of in melanogenesis, we propose that p.Asp201fs is causal for the dilution observed in mushroom ponies.
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Publication Date: 2019-10-19 PubMed ID: 31635058PubMed Central: PMC6827053DOI: 10.3390/genes10100826Google Scholar: Lookup
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  • Journal Article
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  • Non-U.S. Gov't

Summary

This research summary has been generated with artificial intelligence and may contain errors and omissions. Refer to the original study to confirm details provided. Submit correction.

This study discovered the genetic variant responsible for the light, sepia-toned coat color, known as “mushroom”, seen in Shetland Ponies. The genetic mutation, a frameshift variant, was found in the MFSD12 gene and is believed to have a direct impact on pigmentation, diluting the usual chestnut color to create the unique mushroom shade.

Research Purpose and Methodology

  • The research aimed to identify the genetic origin of the distinctive “mushroom” coat color in Shetland Ponies, believed to be a recessive trait. This unique coloration results in a dilution of the standard chestnut coat color to a sepia shade.
  • To investigate this, they performed a genome-wide association study (GWAS), utilizing an Affymetrix 670K array (MNEc670k) to scan the genome and identify potential genes involved. A single locus mixed linear model analysis (EMMAX) found one area of interest on chromosome 7 (ECA7).
  • Homozygosity in a 3 Mb region of this locus was found in the 12 mushroom-colored ponies in the study, indicating a likely location for the responsible gene.

Findings

  • Upon sequencing the DNA in this region, a frameshift variant (a mutation causing a change in the reading frame of the genetic code), designated p.Asp201fs, was found in the MFSD12 gene. This was done by comparing the high throughput Illumina sequencing data from one mushroom Shetland pony to the genomes of 87 horses of various breeds.
  • The mutation was found to be perfectly associated with the mushroom phenotype in all 96 Shetland Ponies tested. Notably, it was also found in the closely related Miniature Horse breed, where the mushroom color has been suspected but not confirmed.
  • In contrast, this mutation was absent in 252 individuals across seven other breeds that are not known to display the mushroom coat color.

Interpretation and Conclusion

  • The MFSD12 gene holds interest due to its high expression in melanocytes — the cells responsible for pigment production. Alterations have been found in this gene in humans, mice, and dogs, with effects on pigmentation noticed in each case.
  • Based on its role in pigmentation, the researchers propose that the identified variant (p.Asp201fs) in the MFSD12 gene is the cause of the mushroom coat color dilution in Shetland Ponies.

Cite This Article

APA
Tanaka J, Leeb T, Rushton J, Famula TR, Mack M, Jagannathan V, Flury C, Bachmann I, Eberth J, McDonnell SM, Penedo MCT, Bellone RR. (2019). Frameshift Variant in MFSD12 Explains the Mushroom Coat Color Dilution in Shetland Ponies. Genes (Basel), 10(10), 826. https://doi.org/10.3390/genes10100826

Publication

Genes
ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 10
Issue: 10
PII: 826

Researcher Affiliations

Tanaka, Jocelyn
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. jltanaka@ucdavis.edu.
Leeb, Tosso
  • Institute of Genetics, University of Bern, 3001 Bern, Switzerland. tosso.leeb@vetsuisse.unibe.ch.
Rushton, James
  • Rowe Equine Ltd, Wotton Under Edge, GLOS GL12 7PP, UK. jamesrushton@rowevetgroup.com.
Famula, Thomas R
  • Department of Animal Science, University of California, One Shields Ave, Davis, CA 95616, USA. trfamula@ucdavis.edu.
Mack, Maura
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. Maura.Mack@colostate.edu.
Jagannathan, Vidhya
  • Institute of Genetics, University of Bern, 3001 Bern, Switzerland. vidhya.jagannathan@vetsuisse.unibe.ch.
Flury, Christine
  • School of Agricultural Forest and Food Sciences, Bern University of Applied Sciences, 3052 Zollikofen, Switzerland. christine.flury@bfh.ch.
Bachmann, Iris
  • Agroscope, Swiss National Stud Farm, 1580 Avenches, Switzerland. iris.bachmann@agroscope.admin.ch.
Eberth, John
  • College of Agriculture, Food and Environment, University of Kentucky, Lexington, KY 40546, USA. john.eberth@uky.edu.
McDonnell, Sue M
  • Havemeyer Equine Behavior Program, University of Pennsylvania School of Veterinary Medicine, New Bolton Center Department of Clinical Studies, Kennett Square, PA 19348, USA. suemcd@vet.upenn.edu.
Penedo, Maria Cecilia T
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. mctorrespenedo@ucdavis.edu.
Bellone, Rebecca R
  • Veterinary Genetics Laboratory, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. rbellone@ucdavis.edu.
  • Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. rbellone@ucdavis.edu.

MeSH Terms

  • Animal Fur / metabolism
  • Animals
  • Frameshift Mutation
  • Horses / genetics
  • Membrane Transport Proteins / genetics
  • Pigmentation / genetics

Conflict of Interest Statement

R.R.B., J.T., and M.C.T.P., are affiliated with the Veterinary Genetics Laboratory, a genetic testing laboratory offering genetic diagnostic testing in horses.

References

This article includes 37 references
  1. Baxter LL, Watkins-Chow DE, Pavan WJ, Loftus SK. A curated gene list for expanding the horizons of pigmentation biology.. Pigment Cell Melanoma Res 2019 May;32(3):348-358.
    doi: 10.1111/pcmr.12743pubmed: 30339321google scholar: lookup
  2. Rieder S, Taourit S, Mariat D, Langlois B, Guérin G. Mutations in the agouti (ASIP), the extension (MC1R), and the brown (TYRP1) loci and their association to coat color phenotypes in horses (Equus caballus).. Mamm Genome 2001 Jun;12(6):450-5.
    doi: 10.1007/s003350020017pubmed: 11353392google scholar: lookup
  3. Mariat D, Taourit S, Guérin G. A mutation in the MATP gene causes the cream coat colour in the horse.. Genet Sel Evol 2003 Jan-Feb;35(1):119-33.
    doi: 10.1186/1297-9686-35-1-119pmc: PMC2732686pubmed: 12605854google scholar: lookup
  4. Sevane N, Sanz CR, Dunner S. Explicit evidence for a missense mutation in exon 4 of SLC45A2 gene causing the pearl coat dilution in horses.. Anim Genet 2019 Jun;50(3):275-278.
    doi: 10.1111/age.12784pubmed: 30968968google scholar: lookup
  5. Holl HM, Pflug KM, Yates KM, Hoefs-Martin K, Shepard C, Cook DG, Lafayette C, Brooks SA. A candidate gene approach identifies variants in SLC45A2 that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses.. Anim Genet 2019 Jun;50(3):271-274.
    doi: 10.1111/age.12790pubmed: 31006892google scholar: lookup
  6. Cook D, Brooks S, Bellone R, Bailey E. Missense mutation in exon 2 of SLC36A1 responsible for champagne dilution in horses.. PLoS Genet 2008 Sep 19;4(9):e1000195.
    doi: 10.1371/journal.pgen.1000195pmc: PMC2535566pubmed: 18802473google scholar: lookup
  7. Imsland F, McGowan K, Rubin CJ, Henegar C, Sundström E, Berglund J, Schwochow D, Gustafson U, Imsland P, Lindblad-Toh K, Lindgren G, Mikko S, Millon L, Wade C, Schubert M, Orlando L, Penedo MC, Barsh GS, Andersson L. Regulatory mutations in TBX3 disrupt asymmetric hair pigmentation that underlies Dun camouflage color in horses.. Nat Genet 2016 Feb;48(2):152-8.
    doi: 10.1038/ng.3475pmc: PMC4731265pubmed: 26691985google scholar: lookup
  8. Brunberg E, Andersson L, Cothran G, Sandberg K, Mikko S, Lindgren G. A missense mutation in PMEL17 is associated with the Silver coat color in the horse.. BMC Genet 2006 Oct 9;7:46.
    doi: 10.1186/1471-2156-7-46pmc: PMC1617113pubmed: 17029645google scholar: lookup
  9. Andersson LS, Wilbe M, Viluma A, Cothran G, Ekesten B, Ewart S, Lindgren G. Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL.. PLoS One 2013;8(9):e75639.
    doi: 10.1371/journal.pone.0075639pmc: PMC3781063pubmed: 24086599google scholar: lookup
  10. Sponenberg DP. Equine Color Genetics. 3rd ed. Wiley-Blackwell; Hoboken, NJ, USA: 2009. p. 255.
  11. Frederiksen AG. Genetic Testing of Silver Shetland Ponies for Allelic Variants of MC1R, ASIP and PMEL17. Master’s Thesis. University of Copenhagen; Copenhagen, Denmark: 2011.
  12. Petersen JL, Mickelson JR, Cothran EG, Andersson LS, Axelsson J, Bailey E, Bannasch D, Binns MM, Borges AS, Brama P, da Câmara Machado A, Distl O, Felicetti M, Fox-Clipsham L, Graves KT, Guérin G, Haase B, Hasegawa T, Hemmann K, Hill EW, Leeb T, Lindgren G, Lohi H, Lopes MS, McGivney BA, Mikko S, Orr N, Penedo MC, Piercy RJ, Raekallio M, Rieder S, Røed KH, Silvestrelli M, Swinburne J, Tozaki T, Vaudin M, M Wade C, McCue ME. Genetic diversity in the modern horse illustrated from genome-wide SNP data.. PLoS One 2013;8(1):e54997.
    doi: 10.1371/journal.pone.0054997pmc: PMC3559798pubmed: 23383025google scholar: lookup
  13. Mack M, Kowalski E, Grahn R, Bras D, Penedo MCT, Bellone R. Two Variants in SLC24A5 Are Associated with "Tiger-Eye" Iris Pigmentation in Puerto Rican Paso Fino Horses.. G3 (Bethesda) 2017 Aug 7;7(8):2799-2806.
    doi: 10.1534/g3.117.043786pmc: PMC5555483pubmed: 28655738google scholar: lookup
  14. Locke MM, Penedo MC, Bricker SJ, Millon LV, Murray JD. Linkage of the grey coat colour locus to microsatellites on horse chromosome 25.. Anim Genet 2002 Oct;33(5):329-37.
    doi: 10.1046/j.1365-2052.2002.00885.xpubmed: 12354140google scholar: lookup
  15. Bellone RR, Liu J, Petersen JL, Mack M, Singer-Berk M, Drögemüller C, Malvick J, Wallner B, Brem G, Penedo MC, Lassaline M. A missense mutation in damage-specific DNA binding protein 2 is a genetic risk factor for limbal squamous cell carcinoma in horses.. Int J Cancer 2017 Jul 15;141(2):342-353.
    doi: 10.1002/ijc.30744pubmed: 28425625google scholar: lookup
  16. Schaefer RJ, Schubert M, Bailey E, Bannasch DL, Barrey E, Bar-Gal GK, Brem G, Brooks SA, Distl O, Fries R, Finno CJ, Gerber V, Haase B, Jagannathan V, Kalbfleisch T, Leeb T, Lindgren G, Lopes MS, Mach N, da Câmara Machado A, MacLeod JN, McCoy A, Metzger J, Penedo C, Polani S, Rieder S, Tammen I, Tetens J, Thaller G, Verini-Supplizi A, Wade CM, Wallner B, Orlando L, Mickelson JR, McCue ME. Developing a 670k genotyping array to tag ~2M SNPs across 24 horse breeds.. BMC Genomics 2017 Jul 27;18(1):565.
    doi: 10.1186/s12864-017-3943-8pmc: PMC5530493pubmed: 28750625google scholar: lookup
  17. Beeson SK, Schaefer RJ, Mason VC, McCue ME. Robust remapping of equine SNP array coordinates to Eq쪳.. Anim Genet 2019 Feb;50(1):114-115.
    doi: 10.1111/age.12745pmc: PMC6349531pubmed: 30421446google scholar: lookup
  18. Kalbfleisch TS, Rice ES, DePriest MS Jr, Walenz BP, Hestand MS, Vermeesch JR, O Connell BL, Fiddes IT, Vershinina AO, Saremi NF, Petersen JL, Finno CJ, Bellone RR, McCue ME, Brooks SA, Bailey E, Orlando L, Green RE, Miller DC, Antczak DF, MacLeod JN. Improved reference genome for the domestic horse increases assembly contiguity and composition.. Commun Biol 2018;1:197.
    doi: 10.1038/s42003-018-0199-zpmc: PMC6240028pubmed: 30456315google scholar: lookup
  19. Jagannathan V, Gerber V, Rieder S, Tetens J, Thaller G, Drögemüller C, Leeb T. Comprehensive characterization of horse genome variation by whole-genome sequencing of 88 horses.. Anim Genet 2019 Feb;50(1):74-77.
    doi: 10.1111/age.12753pubmed: 30525216google scholar: lookup
  20. Chiang C, Layer RM, Faust GG, Lindberg MR, Rose DB, Garrison EP, Marth GT, Quinlan AR, Hall IM. SpeedSeq: ultra-fast personal genome analysis and interpretation.. Nat Methods 2015 Oct;12(10):966-8.
    doi: 10.1038/nmeth.3505pmc: PMC4589466pubmed: 26258291google scholar: lookup
  21. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform.. Bioinformatics 2009 Jul 15;25(14):1754-60.
    doi: 10.1093/bioinformatics/btp324pmc: PMC2705234pubmed: 19451168google scholar: lookup
  22. Faust GG, Hall IM. SAMBLASTER: fast duplicate marking and structural variant read extraction.. Bioinformatics 2014 Sep 1;30(17):2503-5.
    doi: 10.1093/bioinformatics/btu314pmc: PMC4147885pubmed: 24812344google scholar: lookup
  23. Tarasov A, Vilella AJ, Cuppen E, Nijman IJ, Prins P. Sambamba: fast processing of NGS alignment formats.. Bioinformatics 2015 Jun 15;31(12):2032-4.
    doi: 10.1093/bioinformatics/btv098pmc: PMC4765878pubmed: 25697820google scholar: lookup
  24. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, Garimella K, Altshuler D, Gabriel S, Daly M, DePristo MA. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.. Genome Res 2010 Sep;20(9):1297-303.
    doi: 10.1101/gr.107524.110pmc: PMC2928508pubmed: 20644199google scholar: lookup
  25. Cingolani P, Platts A, Wang le L, Coon M, Nguyen T, Wang L, Land SJ, Lu X, Ruden DM. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3.. Fly (Austin) 2012 Apr-Jun;6(2):80-92.
    doi: 10.4161/fly.19695pmc: PMC3679285pubmed: 22728672google scholar: lookup
  26. Untergasser A, Cutcutache I, Koressaar T, Ye J, Faircloth BC, Remm M, Rozen SG. Primer3--new capabilities and interfaces.. Nucleic Acids Res 2012 Aug;40(15):e115.
    doi: 10.1093/nar/gks596pmc: PMC3424584pubmed: 22730293google scholar: lookup
  27. Koressaar T, Remm M. Enhancements and modifications of primer design program Primer3.. Bioinformatics 2007 May 15;23(10):1289-91.
    doi: 10.1093/bioinformatics/btm091pubmed: 17379693google scholar: lookup
  28. Ye J, Coulouris G, Zaretskaya I, Cutcutache I, Rozen S, Madden TL. Primer-BLAST: a tool to design target-specific primers for polymerase chain reaction.. BMC Bioinformatics 2012 Jun 18;13:134.
    doi: 10.1186/1471-2105-13-134pmc: PMC3412702pubmed: 22708584google scholar: lookup
  29. Brooks SA, Lear TL, Adelson DL, Bailey E. A chromosome inversion near the KIT gene and the Tobiano spotting pattern in horses.. Cytogenet Genome Res 2007;119(3-4):225-30.
    doi: 10.1159/000112065pubmed: 18253033google scholar: lookup
  30. Hauswirth R, Haase B, Blatter M, Brooks SA, Burger D, Drögemüller C, Gerber V, Henke D, Janda J, Jude R, Magdesian KG, Matthews JM, Poncet PA, Svansson V, Tozaki T, Wilkinson-White L, Penedo MC, Rieder S, Leeb T. Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses.. PLoS Genet 2012;8(4):e1002653.
    doi: 10.1371/journal.pgen.1002653pmc: PMC3325211pubmed: 22511888google scholar: lookup
  31. Eberth JE. Chondrodysplasia-Like Dwarfism in the Miniature Horse. Master’s Thesis. University of Kentucky; Lexington, KY, USA: 2013.
  32. Adhikari K, Mendoza-Revilla J, Sohail A, Fuentes-Guajardo M, Lampert J, Chacón-Duque JC, Hurtado M, Villegas V, Granja V, Acuña-Alonzo V, Jaramillo C, Arias W, Lozano RB, Everardo P, Gómez-Valdés J, Villamil-Ramírez H, Silva de Cerqueira CC, Hunemeier T, Ramallo V, Schuler-Faccini L, Salzano FM, Gonzalez-José R, Bortolini MC, Canizales-Quinteros S, Gallo C, Poletti G, Bedoya G, Rothhammer F, Tobin DJ, Fumagalli M, Balding D, Ruiz-Linares A. A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.. Nat Commun 2019 Jan 21;10(1):358.
    doi: 10.1038/s41467-018-08147-0pmc: PMC6341102pubmed: 30664655google scholar: lookup
  33. Crawford NG, Kelly DE, Hansen MEB, Beltrame MH, Fan S, Bowman SL, Jewett E, Ranciaro A, Thompson S, Lo Y, Pfeifer SP, Jensen JD, Campbell MC, Beggs W, Hormozdiari F, Mpoloka SW, Mokone GG, Nyambo T, Meskel DW, Belay G, Haut J, Rothschild H, Zon L, Zhou Y, Kovacs MA, Xu M, Zhang T, Bishop K, Sinclair J, Rivas C, Elliot E, Choi J, Li SA, Hicks B, Burgess S, Abnet C, Watkins-Chow DE, Oceana E, Song YS, Eskin E, Brown KM, Marks MS, Loftus SK, Pavan WJ, Yeager M, Chanock S, Tishkoff SA. Loci associated with skin pigmentation identified in African populations.. Science 2017 Nov 17;358(6365).
    doi: 10.1126/science.aan8433pmc: PMC5759959pubmed: 29025994google scholar: lookup
  34. Hédan B, Cadieu E, Botherel N, Dufaure de Citres C, Letko A, Rimbault M, Drögemüller C, Jagannathan V, Derrien T, Schmutz S, Leeb T, André C. Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs.. Genes (Basel) 2019 May 21;10(5).
    doi: 10.3390/genes10050386pmc: PMC6562630pubmed: 31117290google scholar: lookup
  35. Bellone RR, Brooks SA, Sandmeyer L, Murphy BA, Forsyth G, Archer S, Bailey E, Grahn B. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).. Genetics 2008 Aug;179(4):1861-70.
    doi: 10.1534/genetics.108.088807pmc: PMC2516064pubmed: 18660533google scholar: lookup
  36. Sandmeyer LS, Bellone RR, Archer S, Bauer BS, Nelson J, Forsyth G, Grahn BH. Congenital stationary night blindness is associated with the leopard complex in the Miniature Horse.. Vet Ophthalmol 2012 Jan;15(1):18-22.
    doi: 10.1111/j.1463-5224.2011.00903.xpubmed: 22051042google scholar: lookup
  37. Fritz KL, Kaese HJ, Valberg SJ, Hendrickson JA, Rendahl AK, Bellone RR, Dynes KM, Wagner ML, Lucio MA, Cuomo FM, Brinkmeyer-Langford CL, Skow LC, Mickelson JR, Rutherford MS, McCue ME. Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses.. Anim Genet 2014 Jun;45(3):392-9.
    doi: 10.1111/age.12129pubmed: 24467435google scholar: lookup

Citations

This article has been cited 7 times.
  1. Avila F, Hughes SS, Magdesian KG, Penedo MCT, Bellone RR. Breed Distribution and Allele Frequencies of Base Coat Color, Dilution, and White Patterning Variants across 28 Horse Breeds. Genes (Basel) 2022 Sep 13;13(9).
    doi: 10.3390/genes13091641pubmed: 36140807google scholar: lookup
  2. Wang P, Sun X, Miao Q, Mi H, Cao M, Zhao S, Wang Y, Shu Y, Li W, Xu H, Bai D, Zhang Y. Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population. Front Genet 2022;13:967684.
    doi: 10.3389/fgene.2022.967684pubmed: 36035146google scholar: lookup
  3. Momen M, Brounts SH, Binversie EE, Sample SJ, Rosa GJM, Davis BW, Muir P. Selection signature analyses and genome-wide association reveal genomic hotspot regions that reflect differences between breeds of horse with contrasting risk of degenerative suspensory ligament desmitis. G3 (Bethesda) 2022 Sep 30;12(10).
    doi: 10.1093/g3journal/jkac179pubmed: 35866615google scholar: lookup
  4. Esdaile E, Kallenberg A, Avila F, Bellone RR. Identification of W13 in the American Miniature Horse and Shetland Pony Populations. Genes (Basel) 2021 Dec 14;12(12).
    doi: 10.3390/genes12121985pubmed: 34946933google scholar: lookup
  5. Feng Y, McQuillan MA, Tishkoff SA. Evolutionary genetics of skin pigmentation in African populations. Hum Mol Genet 2021 Apr 26;30(R1):R88-R97.
    doi: 10.1093/hmg/ddab007pubmed: 33438000google scholar: lookup
  6. Adelmann CH, Venkatachalam A, Huang L, Liu M, Germana S, Harry SA, Rosen PC, Herron J, Tien PC, Bar-Peled L, Sabatini DM, Fisher DE. Lysosomal reduced thiols are essential for mouse embryonic development. Proc Natl Acad Sci U S A 2025 Sep 9;122(36):e2427125122.
    doi: 10.1073/pnas.2427125122pubmed: 40892915google scholar: lookup
  7. Hédan B, Cadieu E, Botherel N, Dufaure de Citres C, Letko A, Rimbault M, Drögemüller C, Jagannathan V, Derrien T, Schmutz S, Leeb T, André C. Identification of a Missense Variant in MFSD12 Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. Genes (Basel) 2019 May 21;10(5).
    doi: 10.3390/genes10050386pubmed: 31117290google scholar: lookup
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