Intronic variant in POU1F1 associated with canine pituitary dwarfism.

doi:10.1007/s00439-021-02259-2

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Article

Intronic variant in POU1F1 associated with canine pituitary dwarfism.

Human genetics - 1 Nov 2021

Kyöstilä Kaisa, Niskanen Julia E, Arumilli Meharji, Donner Jonas, Hytönen Marjo K, Lohi Hannes

Abstract excerpt

The anterior pituitary gland secretes several endocrine hormones, essential for growth, reproduction and other basic physiological functions. Abnormal development or function of the pituitary gland leads to isolated or combined pituitary hormone deficiency (CPHD). At least 30 genes have been associated with human CPHD, including many transcription factors, such as POU1F1. CPHD occurs spontaneously also in mice...

Topics

Animals
Breeding
Dog Diseases
Dogs
Dwarfism, Pituitary
Exons
Female
Genome-Wide Association Study
Heterozygote
High-Throughput Nucleotide Sequencing
Homozygote
Hypopituitarism
Introns
Male
Mutation
Pedigree
RNA Splicing
Transcription Factor Pit-1

Source

Open in PubMed Open full text

Identifiers

PMID: 33550451
DOI: 10.1007/s00439-021-02259-2
PMCID: PMC8519942

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