Genomic variants reducing expression of two endocytic receptors in 46,XY differences of sex development

Autor:	Hannah L. Marko, Nadine C. Hornig, Regina C. Betz, Paul‐Martin Holterhus, Janine Altmüller, Holger Thiele, Marietta Fabiano, Hans‐Udo Schweikert, Doreen Braun, Ulrich Schweizer
Rok vydání:	2021
Předmět:	Male Sexual Development Receptors Cell Surface Genomics Androgen-Insensitivity Syndrome Mice Receptors Androgen Sex Hormone-Binding Globulin Mutation Genetics Androgens Animals Humans Female Genetics (clinical)
Zdroj:	Human mutationREFERENCES. 43(3)
ISSN:	1098-1004
Popis:	Transporter-dependent steroid hormone uptake into target cells was demonstrated in genetically engineered mice and fruit flies. We hypothesized that mutations in such transporters may cause differences in sex development (DSD) in humans. Exome sequencing was performed in 16 genetically unsolved cases of 46,XY DSD selected from an anonymized collection of 708 lines of genital fibroblasts (GF) that were taken from individuals with incomplete virilization. Selection criteria were based on available biochemical characterization of GF compatible with reduced androgen uptake. Two unrelated individuals were identified with mutations in LDL receptor-related protein 2 (LRP2), a gene previously associated with partial sex steroid insensitivity in mice. Like Lrp2
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55e3c122a0a19cb3a3c6a0e580024f9d https://pubmed.ncbi.nlm.nih.gov/34979047 Zobrazit plný text záznamu Plný text