References
1. Ono M, Harley VR. Disorders of sex development: new genes, new
concepts. NAT REV ENDOCRINOL 2013: 9: 79-91.
2. Kolesinska Z, Acierno J, Ahmed SF et al. Integrating clinical and
genetic approaches in the diagnosis of 46,XY disorder of sex
development. ENDOCR CONNECT 2018.
3. Ahmed SF, Bashamboo A, Lucas-Herald A et al. Understanding the
genetic aetiology in patients with XY DSD. Br Med Bull 2013: 106: 67-89.
4. Quinonez SC, Park JM, Rabah R et al. 9p partial monosomy and
disorders of sex development: review and postulation of a pathogenetic
mechanism. AM J MED GENET A 2013: 161A: 1882-1896.
5. Raymond CS, Shamu CE, Shen MM et al. Evidence for evolutionary
conservation of sex-determining genes. NATURE 1998: 391: 691-695.
6. Ying M, Chen B, Tian Y et al. Nuclear import of human sexual
regulator DMRT1 is mediated by importin-beta. Biochim Biophys Acta 2007:
1773: 804-813.
7. Chauhan V, Jyotsna VP, Jain V et al. Novel Heterozygous Genetic
Variants in Patients with 46,XY Gonadal Dysgenesis. HORM METAB RES 2017:
49: 36-42.
8. Eser M, Ayaz A. Haploinsufficiency of the DMRT Gene Cluster in a Case
with 46,XY Ovotesticular Disorder of Sexual Development. Balkan Med J
2018: 35: 272-274.
9. Gaildrat P, Killian A, Martins A et al. Use of splicing reporter
minigene assay to evaluate the effect on splicing of unclassified
genetic variants. Methods Mol Biol 2010: 653: 249-257.
10. Matson CK, Zarkower D. Sex and the singular DM domain: insights into
sexual regulation, evolution and plasticity. NAT REV GENET 2012: 13:
163-174.
11. Ledig S, Hiort O, Scherer G et al. Array-CGH analysis in patients
with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of
array CGH as diagnostic tool and search for new candidate loci. HUM
REPROD 2010: 25: 2637-2646.
12. Ledig S, Hiort O, Wunsch L et al. Partial deletion of DMRT1 causes
46,XY ovotesticular disorder of sexual development. EUR J ENDOCRINOL
2012: 167: 119-124.
13. Mello MP, Coeli FB, Assumpcao JG et al. Novel DMRT1 3’UTR+11insT
mutation associated to XY partial gonadal dysgenesis. Arq Bras
Endocrinol Metabol 2010: 54: 749-753.
14. Fan Y, Zhang X, Wang L et al. Diagnostic Application of Targeted
Next-Generation Sequencing of 80 Genes Associated with Disorders of
Sexual Development. Sci Rep 2017: 7: 44536.
15.Raymond CS, Parker ED, Kettlewell JR et al. A region of human
chromosome 9p required for testis development contains two genes related
to known sexual regulators. HUM MOL GENET 1999: 8: 989-996.
16.Tewes AC, Ledig S, Tuttelmann F et al. DMRT1 mutations are rarely
associated with male infertility. FERTIL STERIL 2014: 102: 816-820.
17. Lima AC, Carvalho F, Goncalves J et al. Rare double sex and
mab-3-related transcription factor 1 regulatory variants in severe
spermatogenic failure. ANDROLOGY-US 2015: 3: 825-833.
18. Buonocore F, Clifford-Mobley O, King T et al. Next-Generation
Sequencing Reveals Novel Genetic Variants (SRY, DMRT1, NR5A1, DHH,
DHX37) in Adults With 46,XY DSD. J Endocr Soc 2019: 3: 2341-2360.
19. Lopes AM, Aston KI, Thompson E et al. Human spermatogenic failure
purges deleterious mutation load from the autosomes and both sex
chromosomes, including the gene DMRT1. PLOS GENET 2013: 9: e1003349.
20. Shi WJ, Ma DD, Jiang YX et al. Medroxyprogesterone acetate affects
sex differentiation and spermatogenesis in zebrafish. AQUAT TOXICOL
2019: 212: 70-76.
21. Kossack ME, Draper BW. Genetic regulation of sex determination and
maintenance in zebrafish (Danio rerio). CURR TOP DEV BIOL 2019: 134:
119-149.
22. Webster KA, Schach U, Ordaz A et al. Dmrt1 is necessary for male
sexual development in zebrafish. DEV BIOL 2017: 422: 33-46.
23. Masuyama H, Yamada M, Kamei Y et al. Dmrt1 mutation causes a
male-to-female sex reversal after the sex determination by Dmy in the
medaka. CHROMOSOME RES 2012: 20: 163-176.
24. Lambeth LS, Raymond CS, Roeszler KN et al. Over-expression of DMRT1
induces the male pathway in embryonic chicken gonads. DEV BIOL 2014:
389: 160-172.
25. Yan N, Hu J, Li J et al. Genomic organization and sexually dimorphic
expression of the Dmrt1 gene in largemouth bass (Micropterus salmoides).
Comp Biochem Physiol B Biochem Mol Biol 2019: 234: 68-77.
26. Zhao L, Svingen T, Ng ET et al. Female-to-male sex reversal in mice
caused by transgenic overexpression of Dmrt1. DEVELOPMENT 2015: 142:
1083-1088.
27. Macdonald J, Kilcoyne KR, Sharpe RM et al. DMRT1 repression using a
novel approach to genetic manipulation induces testicular dysgenesis in
human fetal gonads. HUM REPROD 2018: 33: 2107-2121.
28.Murphy MW, Lee JK, Rojo S et al. An ancient protein-DNA interaction
underlying metazoan sex determination. NAT STRUCT MOL BIOL 2015: 22:
442-451.
29.Richards S, Aziz N, Bale S et al. Standards and guidelines for the
interpretation of sequence variants: a joint consensus recommendation of
the American College of Medical Genetics and Genomics and the
Association for Molecular Pathology. GENET MED 2015: 17: 405-424.