DMRT1-associated XY gonadal dysgenesis

Heterozygous small deletions in 9p can cause complete and partial XY gonadal dysgenesis without other symptoms. Human DMRT1 gene, which is located at 9p24.3, is expressed in testis and ovary and has been considered, among others, a candidate autosomal gene responsible for gonadal dysgenesis.

A nucleotide insertion in DMRT1 3’UTR has been described in a patient of XY partial gonadal dygenesis. The 3’UTR+11insT is located within a conserved motif important for mRNA stabilization.

Nota Bene: The Y-chromosome-located SRY gene encodes a small testis-specific protein containing a DNA-binding motif known as the HMG (high mobility group) box. However, mutations in SRY are not frequent especially in cases of 46,XY partial gonadal dysgenesis. Several sex-determining genes direct the fate of the bipotential gonad to either testis or ovary.

References

 Novel DMRT1 3’UTR+11insT mutation associated to XY partial gonadal dysgenesis. Mello MP, Coeli FB, Assumpção JG, Castro TM, Maciel-Guerra AT, Marques-de-Faria AP, Baptista MT, Guerra-Júnior G. Arq Bras Endocrinol Metabol. 2010 Nov;54(8):749-53. PMID: 21340164 (Free)