ArticlePLoS genetics2015
LINE-1 Mediated Insertion into Poc1a (Protein of Centriole 1 A) Causes Growth Insufficiency and Male Infertility in Mice.
Article in PLoS genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 29 citations in OpenAlex.
- Ciliopathies are responsible for short stature and insulin resistance: A systematic review of this clinical association regarding SOFT syndrome.Reviews in endocrine & metabolic disorders · 2024Pooled it
- Molecular mechanisms and translational implications in apoptosis, ferroptosis, pyroptosis, and cuproptosis of spermatogonial stem cells.Cellular and molecular life sciences : CMLS · 2026Review
- Centriole Duplication, Maturation, and Transformation During Mammalian Spermatogenesis.Advances in experimental medicine and biology · 2026Review
- POC1A colocalizes with POC1B in human and bovine spermatozoa centrioles.microPublication biology · 2026Article
- The genetic basis of human height.Nature reviews. Genetics · 2025Review
- Male germ cells with Bag5 deficiency show reduced spermiogenesis and exchange of basic nuclear proteins.Cellular and molecular life sciences : CMLS · 2025Article
- Article
- Dynamic dysregulation of retrotransposons in neurodegenerative diseases at the single-cell level.Genome research · 2024Article
- Case Report: Identification of a rare nonsense mutation in theFrontiers in genetics · 2023Article
- Biallelic POC1A variants cause syndromic severe insulin resistance with muscle cramps.European journal of endocrinology · 2022Observational
- Wdpcp regulates cellular proliferation and differentiation in the developing limb via hedgehog signaling.BMC developmental biology · 2021Article
- Expression Analysis of Circular RNAs in Young and Sexually Mature Boar Testes.Animals : an open access journal from MDPI · 2021Article
- Perspective of the GEMSTONE Consortium on Current and Future Approaches to Functional Validation for Skeletal Genetic Disease Using Cellular, Molecular and Animal-Modeling Techniques.Frontiers in endocrinology · 2021Review
- Genes Regulating Spermatogenesis and Sperm Function Associated With Rare Disorders.Frontiers in cell and developmental biology · 2021Review
- The sperm centrioles.Molecular and cellular endocrinology · 2020Review
- Retrotransposons Manipulating Mammalian Skeletal Development in Chondrocytes.International journal of molecular sciences · 2020Review
- Insights into photoreceptor ciliogenesis revealed by animal models.Progress in retinal and eye research · 2019Review
- Genetic variation in thyroid folliculogenesis influences susceptibility to hypothyroidism-induced hearing impairment.Mammalian genome : official journal of the International Mammalian Genome Society · 2019Article
- Mouse germ line mutations due to retrotransposon insertions.Mobile DNA · 2019Review
- Constitutive Cyclin O deficiency results in penetrant hydrocephalus, impaired growth and infertility.Oncotarget · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Skeletal dysplasias are a common, genetically heterogeneous cause of short stature that can result from disruptions in many cellular processes. We report the identification of the lesion responsible for skeletal dysplasia and male infertility in the spontaneous, recessive mouse mutant chagun. We determined that Poc1a, encoding protein of the centriole 1a, is disrupted by the insertion of a processed Cenpw cDNA, which is flanked by target site duplications, suggestive of a LINE-1 retrotransposon-mediated event. Mutant fibroblasts have impaired cilia formation and multipolar spindles. Male infertility is caused by defective spermatogenesis early in meiosis and progressive germ cell loss. Spermatogonial stem cell transplantation studies revealed that Poc1a is essential for normal function of both Sertoli cells and germ cells. The proliferative zone of the growth plate is small and disorganized because chondrocytes fail to re-align after cell division and undergo increased apoptosis. Poc1a and several other genes associated with centrosome function can affect the skeleton and lead to skeletal dysplasias and primordial dwarfisms. This mouse mutant reveals how centrosome dysfunction contributes to defects in skeletal growth and male infertility.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.