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Incomplete Dominance01:43

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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Related Experiment Video

Updated: Dec 22, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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NR5A1 Gene Variants: Variable Phenotypes, New Variants, Different Outcomes.

Maria F Faienza, Mariangela Chiarito, Fulvia Baldinotti

    Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
    |May 6, 2020
    PubMed
    Summary
    This summary is machine-generated.

    Mutations in the NR5A1 gene can cause 46,XY disorders of sex development (DSD) with impaired reproductive function and variable genital phenotypes. Genetic testing is crucial for diagnosis and management, regardless of clinical presentation.

    Keywords:
    46,XY disorders of sex developmentAtypical genitaliaHypergonadotropic hypogonadismNR5A1 genePuberty

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    In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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    Area of Science:

    • Genetics
    • Endocrinology
    • Developmental Biology

    Background:

    • NR5A1 (nuclear receptor subfamily 5 group A member 1) is vital for adrenal and gonadal development.
    • NR5A1 mutations are linked to 46,XY disorders of sex development (DSD).

    Purpose of the Study:

    • To report clinical, endocrine, and genetic findings in four 46,XY individuals with NR5A1 variants.
    • To characterize a novel NR5A1 variant and assess its pathogenicity.

    Main Methods:

    • Clinical and endocrine evaluation of four 46,XY subjects from three families.
    • Genetic investigation including sequencing and in silico analysis.
    • ACMG classification of identified NR5A1 variants.

    Main Results:

    • All subjects presented with hypergonadotropic hypogonadism and abnormal puberty.
    • Sertoli cell function markers were more affected than Leydig cell markers.
    • Previously reported and a novel heterozygous NR5A1 variants were identified; the new variant was classified as pathogenic.

    Conclusions:

    • NR5A1 mutations cause variable 46,XY DSD phenotypes with consistent reproductive impairment.
    • Clinical and endocrine data alone cannot differentiate these cases, necessitating molecular analysis.
    • Management requires careful consideration of sex assignment and lifelong hormonal therapy.