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Home / Equine Research Bank / Genes (Basel) / Characterization of A Homozygous Deletion of Steroid Hormone...
Genes2020; 11(3); 251; doi: 10.3390/genes11030251

Characterization of A Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as A Risk Factor for Disorders of Sex Development and Reproduction.

Abstract: Disorders of sex development (DSD) and reproduction are not uncommon among horses, though knowledge about their molecular causes is sparse. Here we characterized a ~200 kb homozygous deletion in chromosome 29 at 29.7-29.9 Mb. The region contains genes which function as ketosteroid reductases in steroid hormone biosynthesis, including androgens and estrogens. Mutations in genes are associated with human DSDs. Deletion boundaries, sequence properties and gene content were studied by PCR and whole genome sequencing of select deletion homozygotes and control animals. Deletion analysis by PCR in 940 horses, including 622 with DSDs and reproductive problems and 318 phenotypically normal controls, detected 67 deletion homozygotes of which 79% were developmentally or reproductively abnormal. Altogether, 8-9% of all abnormal horses were homozygous for the deletion, with the highest incidence (9.4%) among cryptorchids. The deletion was found in ~4% of our phenotypically normal cohort, ~1% of global warmblood horses and ponies, and ~7% of draught breeds of general horse population as retrieved from published data. Based on the abnormal phenotype of the carriers, the functionally relevant gene content, and the low incidence in general population, we consider the deletion in chromosome 29 as a risk factor for equine DSDs and reproductive disorders.
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Publication Date: 2020-02-27 PubMed ID: 32120906PubMed Central: PMC7140900DOI: 10.3390/genes11030251Google Scholar: Lookup
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  • Journal Article
  • Research Support
  • 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 investigates a certain genetic deletion in horses, which might be a risk factor for Disorders of Sexual Development (DSD) and reproductive issues. Researchers found that 79% of horses with this homozygous deletion in their chromosomes experienced abnormal development or reproductive problems.

Research Objective and Background

The study aimed to identify potential genetic causes for Disorders of Sexual Development (DSD) and reproductive problems in horses. It is known that these disorders are not uncommon among the horse population, though information about their molecular origins is scarce. The specific focus for this research was a ~200 kb deletion in chromosome 29, a region known to contain genes vital to steroid hormone biosynthesis, including androgens and estrogens. Similar mutations in humans have been associated with DSDs.

Methodology

  • The researchers began by studying the deletion boundaries, sequence properties, and gene content in selected horses with this homozygous deletion and control groups. This involved using Polymerase Chain Reaction (PCR) and whole genome sequencing.
  • From a sample of 940 horses, the researchers conducted deletion analysis. This sample included 622 horses with DSDs and reproductive problems and 318 normal controls.

Key Findings

  • Of the 67 horses identified with the homozygous deletion, around 79% showed abnormal traits in terms of development or reproduction.
  • The deletion was found in nearly 4% of the normal horses, 1% of global warmblood horses and ponies, and around 7% of draught breeds. These figures were derived from studying the deletion in populations using published data.
  • 8-9% of abnormal horses were homozygous for the deletion. The highest incidence (9.4%) occurred among cryptorchid horses (male horses with one or both testicles undescended).

Conclusion

The researchers concluded that the homozygous deletion in chromosome 29 could be a risk factor for equine DSDs and reproductive disorders. This conclusion is based on observing the abnormal phenotype in carrier horses, the functionally important gene content, and the relatively low incidence in the general horse population.

Cite This Article

APA
Ghosh S, Davis BW, Rosengren M, Jevit MJ, Castaneda C, Arnold C, Jaxheimer J, Love CC, Varner DD, Lindgren G, Wade CM, Raudsepp T. (2020). Characterization of A Homozygous Deletion of Steroid Hormone Biosynthesis Genes in Horse Chromosome 29 as A Risk Factor for Disorders of Sex Development and Reproduction. Genes (Basel), 11(3), 251. https://doi.org/10.3390/genes11030251

Publication

Genes
ISSN: 2073-4425
NlmUniqueID: 101551097
Country: Switzerland
Language: English
Volume: 11
Issue: 3
PII: 251

Researcher Affiliations

Ghosh, Sharmila
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Davis, Brian W
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Rosengren, Maria
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007 Uppsala, Sweden.
Jevit, Matthew J
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Castaneda, Caitlin
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Arnold, Carolyn
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Jaxheimer, Jay
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Love, Charles C
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Varner, Dickson D
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.
Lindgren, Gabriella
  • Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 75007 Uppsala, Sweden.
  • Livestock Genetics, Department of Biosystems, KU Leuven, 3001 Leuven, Belgium.
Wade, Claire M
  • School of Life and Environmental Sciences, The University of Sydney, NSW 2006, Australia.
Raudsepp, Terje
  • College of Veterinary Medicine and Biomedical Sciences, Texas A&M University, College Station, TX 77843-4458, USA.

MeSH Terms

  • Animals
  • Breeding
  • Chromosomes / genetics
  • Disorders of Sex Development / genetics
  • Disorders of Sex Development / pathology
  • Genotype
  • Gonadal Steroid Hormones / biosynthesis
  • Gonadal Steroid Hormones / genetics
  • Homozygote
  • Horses / genetics
  • Polymorphism, Single Nucleotide / genetics
  • Reproduction / genetics
  • Reproduction / physiology
  • Risk Factors
  • Sequence Deletion / genetics
  • Sexual Development / genetics

Conflict of Interest Statement

The authors declare no competing interests.

References

This article includes 55 references
  1. Audi L, Ahmed SF, Krone N, Cools M, McElreavey K, Holterhus PM, Greenfield A, Bashamboo A, Hiort O, Wudy SA, McGowan R. GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’.. Eur J Endocrinol 2018 Oct 1;179(4):R197-R206.
    doi: 10.1530/EJE-18-0256pmc: PMC6182188pubmed: 30299888google scholar: lookup
  2. Barseghyan H, Délot EC, Vilain E. New technologies to uncover the molecular basis of disorders of sex development.. Mol Cell Endocrinol 2018 Jun 15;468:60-69.
    doi: 10.1016/j.mce.2018.04.003pmc: PMC7249677pubmed: 29655603google scholar: lookup
  3. Witchel SF. Disorders of sex development.. Best Pract Res Clin Obstet Gynaecol 2018 Apr;48:90-102.
    doi: 10.1016/j.bpobgyn.2017.11.005pmc: PMC5866176pubmed: 29503125google scholar: lookup
  4. Baetens D, Verdin H, De Baere E, Cools M. Update on the genetics of differences of sex development (DSD).. Best Pract Res Clin Endocrinol Metab 2019 Jun;33(3):101271.
    doi: 10.1016/j.beem.2019.04.005pubmed: 31005504google scholar: lookup
  5. Ono M, Harley VR. Disorders of sex development: new genes, new concepts.. Nat Rev Endocrinol 2013 Feb;9(2):79-91.
    doi: 10.1038/nrendo.2012.235pubmed: 23296159google scholar: lookup
  6. Penning TM, Burczynski ME, Jez JM, Hung CF, Lin HK, Ma H, Moore M, Palackal N, Ratnam K. Human 3alpha-hydroxysteroid dehydrogenase isoforms (AKR1C1-AKR1C4) of the aldo-keto reductase superfamily: functional plasticity and tissue distribution reveals roles in the inactivation and formation of male and female sex hormones.. Biochem J 2000 Oct 1;351(Pt 1):67-77.
    pmc: PMC1221336pubmed: 10998348doi: 10.1042/0264-6021:3510067google scholar: lookup
  7. Hughes IA, Houk C, Ahmed SF, Lee PA. Consensus statement on management of intersex disorders.. J Pediatr Urol 2006 Jun;2(3):148-62.
    doi: 10.1016/j.jpurol.2006.03.004pubmed: 18947601google scholar: lookup
  8. Kalfa N, Gaspari L, Ollivier M, Philibert P, Bergougnoux A, Paris F, Sultan C. Molecular genetics of hypospadias and cryptorchidism recent developments.. Clin Genet 2019 Jan;95(1):122-131.
    doi: 10.1111/cge.13432pubmed: 30084162google scholar: lookup
  9. Croft B, Ayers K, Sinclair A, Ohnesorg T. Review disorders of sex development: The evolving role of genomics in diagnosis and gene discovery.. Birth Defects Res C Embryo Today 2016 Dec;108(4):337-350.
    pubmed: 28033663doi: 10.1002/bdrc.21148google scholar: lookup
  10. Agoulnik AI, Huang Z, Ferguson L. Spermatogenesis in cryptorchidism.. Methods Mol Biol 2012;825:127-47.
    pubmed: 22144242doi: 10.1007/978-1-61779-436-0_11google scholar: lookup
  11. Eggers S, Sadedin S, van den Bergen JA, Robevska G, Ohnesorg T, Hewitt J, Lambeth L, Bouty A, Knarston IM, Tan TY, Cameron F, Werther G, Hutson J, O'Connell M, Grover SR, Heloury Y, Zacharin M, Bergman P, Kimber C, Brown J, Webb N, Hunter MF, Srinivasan S, Titmuss A, Verge CF, Mowat D, Smith G, Smith J, Ewans L, Shalhoub C, Crock P, Cowell C, Leong GM, Ono M, Lafferty AR, Huynh T, Visser U, Choong CS, McKenzie F, Pachter N, Thompson EM, Couper J, Baxendale A, Gecz J, Wheeler BJ, Jefferies C, MacKenzie K, Hofman P, Carter P, King RI, Krausz C, van Ravenswaaij-Arts CM, Looijenga L, Drop S, Riedl S, Cools M, Dawson A, Juniarto AZ, Khadilkar V, Khadilkar A, Bhatia V, Dũng VC, Atta I, Raza J, Thi Diem Chi N, Hao TK, Harley V, Koopman P, Warne G, Faradz S, Oshlack A, Ayers KL, Sinclair AH. Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.. Genome Biol 2016 Nov 29;17(1):243.
    doi: 10.1186/s13059-016-1105-ypmc: PMC5126855pubmed: 27899157google scholar: lookup
  12. Raudsepp T, Chowdhary BP. Chromosome Aberrations and Fertility Disorders in Domestic Animals.. Annu Rev Anim Biosci 2016;4:15-43.
    doi: 10.1146/annurev-animal-021815-111239pubmed: 26884101google scholar: lookup
  13. Lear TL, McGee RB. Disorders of sexual development in the domestic horse, Equus caballus.. Sex Dev 2012;6(1-3):61-71.
    doi: 10.1159/000334048pubmed: 22095202google scholar: lookup
  14. Villagómez DA, Lear TL, Chenier T, Lee S, McGee RB, Cahill J, Foster RA, Reyes E, St John E, King WA. Equine disorders of sexual development in 17 mares including XX, SRY-negative, XY, SRY-negative and XY, SRY-positive genotypes.. Sex Dev 2011;5(1):16-25.
    doi: 10.1159/000322811pubmed: 21196712google scholar: lookup
  15. Villagómez DA, Parma P, Radi O, Di Meo G, Pinton A, Iannuzzi L, King WA. Classical and molecular cytogenetics of disorders of sex development in domestic animals.. Cytogenet Genome Res 2009;126(1-2):110-31.
    doi: 10.1159/000245911pubmed: 20016161google scholar: lookup
  16. Hayes HM. Epidemiological features of 5009 cases of equine cryptorchism.. Equine Vet J 1986 Nov;18(6):467-71.
    doi: 10.1111/j.2042-3306.1986.tb03692.xpubmed: 2879730google scholar: lookup
  17. Villagómez DA, Iannuzzi L, King WA. Disorders of sex development in domestic animals. Preface.. Sex Dev 2012;6(1-3):5-6.
    pubmed: 22343658doi: 10.1159/000332741google scholar: lookup
  18. Raudsepp T, Durkin K, Lear TL, Das PJ, Avila F, Kachroo P, Chowdhary BP. Molecular heterogeneity of XY sex reversal in horses.. Anim Genet 2010 Dec;41 Suppl 2:41-52.
    doi: 10.1111/j.1365-2052.2010.02101.xpubmed: 21070275google scholar: lookup
  19. Révay T, Villagómez DA, Brewer D, Chenier T, King WA. GTG mutation in the start codon of the androgen receptor gene in a family of horses with 64,XY disorder of sex development.. Sex Dev 2012;6(1-3):108-16.
    doi: 10.1159/000334049pubmed: 22095250google scholar: lookup
  20. Bolzon C, Joonè CJ, Schulman ML, Harper CK, Villagómez DA, King WA, Révay T. Missense Mutation in the Ligand-Binding Domain of the Horse Androgen Receptor Gene in a Thoroughbred Family with Inherited 64,XY (SRY+) Disorder of Sex Development.. Sex Dev 2016;10(1):37-44.
    doi: 10.1159/000444991pubmed: 27073903google scholar: lookup
  21. Welsford GE, Munk R, Villagómez DA, Hyttel P, King WA, Revay T. Androgen Insensitivity Syndrome in a Family of Warmblood Horses Caused by a 25-bp Deletion of the DNA-Binding Domain of the Androgen Receptor Gene.. Sex Dev 2017;11(1):40-45.
    doi: 10.1159/000455114pubmed: 28192783google scholar: lookup
  22. Ghosh S, Qu Z, Das PJ, Fang E, Juras R, Cothran EG, McDonell S, Kenney DG, Lear TL, Adelson DL, Chowdhary BP, Raudsepp T. Copy number variation in the horse genome.. PLoS Genet 2014 Oct;10(10):e1004712.
    doi: 10.1371/journal.pgen.1004712pmc: PMC4207638pubmed: 25340504google scholar: lookup
  23. Wade CM, Giulotto E, Sigurdsson S, Zoli M, Gnerre S, Imsland F, Lear TL, Adelson DL, Bailey E, Bellone RR, Blöcker H, Distl O, Edgar RC, Garber M, Leeb T, Mauceli E, MacLeod JN, Penedo MC, Raison JM, Sharpe T, Vogel J, Andersson L, Antczak DF, Biagi T, Binns MM, Chowdhary BP, Coleman SJ, Della Valle G, Fryc S, Guérin G, Hasegawa T, Hill EW, Jurka J, Kiialainen A, Lindgren G, Liu J, Magnani E, Mickelson JR, Murray J, Nergadze SG, Onofrio R, Pedroni S, Piras MF, Raudsepp T, Rocchi M, Røed KH, Ryder OA, Searle S, Skow L, Swinburne JE, Syvänen AC, Tozaki T, Valberg SJ, Vaudin M, White JR, Zody MC, Lander ES, Lindblad-Toh K. Genome sequence, comparative analysis, and population genetics of the domestic horse.. Science 2009 Nov 6;326(5954):865-7.
    doi: 10.1126/science.1178158pmc: PMC3785132pubmed: 19892987google scholar: lookup
  24. 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
  25. Solé M, Ablondi M, Binzer-Panchal A, Velie BD, Hollfelder N, Buys N, Ducro BJ, François L, Janssens S, Schurink A, Viklund Å, Eriksson S, Isaksson A, Kultima H, Mikko S, Lindgren G. Inter- and intra-breed genome-wide copy number diversity in a large cohort of European equine breeds.. BMC Genomics 2019 Oct 22;20(1):759.
    doi: 10.1186/s12864-019-6141-zpmc: PMC6805398pubmed: 31640551google scholar: lookup
  26. Velie BD, Shrestha M, Franҫois L, Schurink A, Tesfayonas YG, Stinckens A, Blott S, Ducro BJ, Mikko S, Thomas R, Swinburne JE, Sundqvist M, Eriksson S, Buys N, Lindgren G. Using an Inbred Horse Breed in a High Density Genome-Wide Scan for Genetic Risk Factors of Insect Bite Hypersensitivity (IBH).. PLoS One 2016;11(4):e0152966.
    doi: 10.1371/journal.pone.0152966pmc: PMC4829256pubmed: 27070818google scholar: lookup
  27. 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
  28. Untergasser A, Nijveen H, Rao X, Bisseling T, Geurts R, Leunissen JA. Primer3Plus, an enhanced web interface to Primer3.. Nucleic Acids Res 2007 Jul;35(Web Server issue):W71-4.
    doi: 10.1093/nar/gkm306pmc: PMC1933133pubmed: 17485472google scholar: lookup
  29. Bodin L, Beaune PH, Loriot MA. Determination of cytochrome P450 2D6 (CYP2D6) gene copy number by real-time quantitative PCR.. J Biomed Biotechnol 2005;2005(3):248-53.
    doi: 10.1155/JBB.2005.248pmc: PMC1224698pubmed: 16192683google scholar: lookup
  30. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method.. Methods 2001 Dec;25(4):402-8.
    doi: 10.1006/meth.2001.1262pubmed: 11846609google scholar: lookup
  31. Raudsepp T, Chowdhary BP. FISH for mapping single copy genes.. Methods Mol Biol 2008;422:31-49.
    pubmed: 18629659doi: 10.1007/978-1-59745-581-7_3google scholar: lookup
  32. Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM. arXiv 20131303.3997.
  33. Li H, Handsaker B, Wysoker A, Fennell T, Ruan J, Homer N, Marth G, Abecasis G, Durbin R. The Sequence Alignment/Map format and SAMtools.. Bioinformatics 2009 Aug 15;25(16):2078-9.
    doi: 10.1093/bioinformatics/btp352pmc: PMC2723002pubmed: 19505943google scholar: lookup
  34. 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
  35. Huddleston J, Ranade S, Malig M, Antonacci F, Chaisson M, Hon L, Sudmant PH, Graves TA, Alkan C, Dennis MY, Wilson RK, Turner SW, Korlach J, Eichler EE. Reconstructing complex regions of genomes using long-read sequencing technology.. Genome Res 2014 Apr;24(4):688-96.
    doi: 10.1101/gr.168450.113pmc: PMC3975067pubmed: 24418700google scholar: lookup
  36. Koren S, Walenz BP, Berlin K, Miller JR, Bergman NH, Phillippy AM. Canu: scalable and accurate long-read assembly via adaptive k-mer weighting and repeat separation.. Genome Res 2017 May;27(5):722-736.
    doi: 10.1101/gr.215087.116pmc: PMC5411767pubmed: 28298431google scholar: lookup
  37. Li H. Minimap2: pairwise alignment for nucleotide sequences.. Bioinformatics 2018 Sep 15;34(18):3094-3100.
    doi: 10.1093/bioinformatics/bty191pmc: PMC6137996pubmed: 29750242google scholar: lookup
  38. Rižner TL, Penning TM. Role of aldo-keto reductase family 1 (AKR1) enzymes in human steroid metabolism.. Steroids 2014 Jan;79:49-63.
    doi: 10.1016/j.steroids.2013.10.012pmc: PMC3870468pubmed: 24189185google scholar: lookup
  39. Karunasinghe N, Masters J, Flanagan JU, Ferguson LR. Influence of Aldo-keto Reductase 1C3 in Prostate Cancer - A Mini Review.. Curr Cancer Drug Targets 2017;17(7):603-616.
    doi: 10.2174/1568009617666170330115722pubmed: 28359237google scholar: lookup
  40. Usher CL, McCarroll SA. Complex and multi-allelic copy number variation in human disease.. Brief Funct Genomics 2015 Sep;14(5):329-38.
    doi: 10.1093/bfgp/elv028pmc: PMC4576757pubmed: 26163405google scholar: lookup
  41. Doan R, Cohen N, Harrington J, Veazey K, Juras R, Cothran G, McCue ME, Skow L, Dindot SV. Identification of copy number variants in horses.. Genome Res 2012 May;22(5):899-907.
    doi: 10.1101/gr.128991.111pmc: PMC3337435pubmed: 22383489google scholar: lookup
  42. Dupuis MC, Zhang Z, Durkin K, Charlier C, Lekeux P, Georges M. Detection of copy number variants in the horse genome and examination of their association with recurrent laryngeal neuropathy.. Anim Genet 2013 Apr;44(2):206-8.
    doi: 10.1111/j.1365-2052.2012.02373.xpubmed: 22582820google scholar: lookup
  43. Fukami M, Homma K, Hasegawa T, Ogata T. Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development.. Dev Dyn 2013 Apr;242(4):320-9.
    doi: 10.1002/dvdy.23892pubmed: 23073980google scholar: lookup
  44. Biason-Lauber A, Miller WL, Pandey AV, Flück CE. Of marsupials and men: "Backdoor" dihydrotestosterone synthesis in male sexual differentiation.. Mol Cell Endocrinol 2013 May 22;371(1-2):124-32.
    doi: 10.1016/j.mce.2013.01.017pubmed: 23376007google scholar: lookup
  45. Auchus RJ. The backdoor pathway to dihydrotestosterone.. Trends Endocrinol Metab 2004 Nov;15(9):432-8.
    doi: 10.1016/j.tem.2004.09.004pubmed: 15519890google scholar: lookup
  46. Hevir N, Vouk K, Sinkovec J, Ribič-Pucelj M, Rižner TL. Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis.. Chem Biol Interact 2011 May 30;191(1-3):217-26.
    doi: 10.1016/j.cbi.2011.01.003pubmed: 21232532google scholar: lookup
  47. Flück CE, Meyer-Böni M, Pandey AV, Kempná P, Miller WL, Schoenle EJ, Biason-Lauber A. Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation.. Am J Hum Genet 2011 Aug 12;89(2):201-18.
    doi: 10.1016/j.ajhg.2011.06.009pmc: PMC3155178pubmed: 21802064google scholar: lookup
  48. Ishida M, Choi JH, Hirabayashi K, Matsuwaki T, Suzuki M, Yamanouchi K, Horai R, Sudo K, Iwakura Y, Nishihara M. Reproductive phenotypes in mice with targeted disruption of the 20alpha-hydroxysteroid dehydrogenase gene.. J Reprod Dev 2007 Jun;53(3):499-508.
    doi: 10.1262/jrd.18125pubmed: 17272929google scholar: lookup
  49. Choi JH, Ishida M, Matsuwaki T, Yamanouchi K, Nishihara M. Involvement of 20alpha-hydroxysteroid dehydrogenase in the maintenance of pregnancy in mice.. J Reprod Dev 2008 Dec;54(6):408-12.
    doi: 10.1262/jrd.20045pubmed: 18667791google scholar: lookup
  50. Zarrei M, MacDonald JR, Merico D, Scherer SW. A copy number variation map of the human genome.. Nat Rev Genet 2015 Mar;16(3):172-83.
    doi: 10.1038/nrg3871pubmed: 25645873google scholar: lookup
  51. Penning TM, Drury JE. Human aldo-keto reductases: Function, gene regulation, and single nucleotide polymorphisms.. Arch Biochem Biophys 2007 Aug 15;464(2):241-50.
    doi: 10.1016/j.abb.2007.04.024pmc: PMC2025677pubmed: 17537398google scholar: lookup
  52. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S, Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D, Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A, Woodwark C, Yang F, Zhang J, Zerjal T, Zhang J, Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C, Jones KW, Scherer SW, Hurles ME. Global variation in copy number in the human genome.. Nature 2006 Nov 23;444(7118):444-54.
    doi: 10.1038/nature05329pmc: PMC2669898pubmed: 17122850google scholar: lookup
  53. Bickhart DM, Hou Y, Schroeder SG, Alkan C, Cardone MF, Matukumalli LK, Song J, Schnabel RD, Ventura M, Taylor JF, Garcia JF, Van Tassell CP, Sonstegard TS, Eichler EE, Liu GE. Copy number variation of individual cattle genomes using next-generation sequencing.. Genome Res 2012 Apr;22(4):778-90.
    doi: 10.1101/gr.133967.111pmc: PMC3317159pubmed: 22300768google scholar: lookup
  54. Iskow RC, Gokcumen O, Lee C. Exploring the role of copy number variants in human adaptation.. Trends Genet 2012 Jun;28(6):245-57.
    doi: 10.1016/j.tig.2012.03.002pmc: PMC3533238pubmed: 22483647google scholar: lookup
  55. Raudsepp T, Finno CJ, Bellone RR, Petersen JL. Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era.. Anim Genet 2019 Dec;50(6):569-597.
    doi: 10.1111/age.12857pmc: PMC6825885pubmed: 31568563google scholar: lookup

Citations

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    doi: 10.1093/g3journal/jkac278pubmed: 36227030google scholar: lookup
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    doi: 10.3390/ani12111435pubmed: 35681904google scholar: lookup
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  4. Mendoza MN, Raudsepp T, More MJ, Gutiérrez GA, Ponce de León FA. Cytogenetic Mapping of 35 New Markers in the Alpaca (Vicugna pacos).. Genes (Basel) 2020 May 8;11(5).
    doi: 10.3390/genes11050522pubmed: 32397072google scholar: lookup
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