ArticlePloS one2015
Human MAMLD1 Gene Variations Seem Not Sufficient to Explain a 46,XY DSD Phenotype.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 20 citations in OpenAlex.
- Review
- A novel MAMLD1 variant in a newborn with hypospadias and elevated 17-hydroxyprogesterone.Hormones (Athens, Greece) · 2024Article
- A NewFrontiers in endocrinology · 2022Article
- Clinical and molecular spectrum of 46,XY disorders of sex development that harbour MAMLD1 variations: case series and review of literature.Orphanet journal of rare diseases · 2020Review
- Attenuation of MAMLD1 Expression Suppresses the Growth and Migratory Properties of Gonadotroph Pituitary Adenomas.Pathology oncology research : POR · 2020Article
- Oligogenic Origin of Differences of Sex Development in Humans.International journal of molecular sciences · 2020Review
- Disorders of Sex Development in Individuals HarbouringFrontiers in endocrinology · 2020Article
- Intracranial ependymomas: molecular insights and translation to treatment.Brain pathology (Zurich, Switzerland) · 2020Review
- Broad Phenotypes of Disorders/Differences of Sex Development inFrontiers in genetics · 2019Article
- Knockout of Murine Mamld1 Impairs Testicular Growth and Daily Sperm Production but Permits Normal Postnatal Androgen Production and Fertility.International journal of molecular sciences · 2017Article
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Authors and funding
11 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MAMLD1 is thought to cause disordered sex development in 46,XY patients. But its role is controversial because some MAMLD1 variants are also detected in normal individuals, several MAMLD1 mutations have wild-type activity in functional tests, and the male Mamld1-knockout mouse has normal genitalia and reproduction. Our aim was to search for MAMLD1 variations in 108 46,XY patients with disordered sex development, and to test them functionally. We detected MAMDL1 variations and compared SNP frequencies in controls and patients. We tested MAMLD1 transcriptional activity on promoters involved in sex development and assessed the effect of MAMLD1 on androgen production. MAMLD1 expression in normal steroid-producing tissues and mutant MAMLD1 protein expression were also assessed. Nine MAMLD1 mutations (7 novel) were characterized. In vitro, most MAMLD1 variants acted similarly to wild type. Only the L210X mutation showed loss of function in all tests. We detected no effect of wild-type or MAMLD1 variants on CYP17A1 enzyme activity in our cell experiments, and Western blots revealed no significant differences for MAMLD1 protein expression. MAMLD1 was expressed in human adult testes and adrenals. In conclusion, our data support the notion that MAMLD1 sequence variations may not suffice to explain the phenotype in carriers and that MAMLD1 may also have a role in adult life.
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