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Open research questions in Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

119 unresolved questions extracted from the limitations and future-work sections of 387 Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities papers in our library. Each links back to the study that raised it.

What the literature leaves open

  • The study faced challenges in developing reliable sex-specific DNA markers due to the highly diverse and evolutionarily labile sex-determination systems of teleost fishes. The lack of dedicated no-template controls and co-amplified internal amplification controls in the PCR assays may affect the diagnostic reliability of the markers.

    Whole-Genome Re-Sequencing Identifies Male-Associated Markers and a Marker-Enriched Region on Chromosome 14 in Siniperca scherzeri · 2026 · DOI

  • the sample originated from one farmed cohort of unknown pedigree, - the PCR assays lacked dedicated no-template and internal amplification controls, - contamination was not monitored by a concurrent no-template reaction, - the absence of a marker band could not be distinguished unequivocally from PCR failure or poor DNA quality

    Whole-Genome Re-Sequencing Identifies Male-Associated Markers and a Marker-Enriched Region on Chromosome 14 in Siniperca scherzeri · 2026 · DOI

  • Further investigation of the 5 patients with variants of unknown significance, - Study of the long-term effects of POI, - Investigation of the genetic causes of POI in different populations

    Novel variants associated with premature ovarian insufficiency in Russian adolescents · 2025 · DOI

  • Monogenic disorders account for fewer than half of idiopathic premature ovarian insufficiency cases in adolescents. There is a need for further genetic investigation across diverse populations. The study aims to address this gap by investigating the genetic causes of premature ovarian insufficiency in Russian adolescents.

    Novel variants associated with premature ovarian insufficiency in Russian adolescents · 2025 · DOI

  • Further exploration of the role of mLOY in various diseases, - Investigation of the molecular bases explaining how LOY may increase the risk and severity of cancer, - Confirmation of the significance of environmental and genetic factors associated with mLOY

    Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health · 2024 · DOI

  • the mechanisms that generate mosaic loss of the Y chromosome have not been studied - the significance of various environmental and genetic factors on mosaic loss of the Y chromosome needs to be confirmed - the role of mosaic loss of the Y chromosome in various diseases needs to be further explored

    Loss of the Y Chromosome: A Review of Molecular Mechanisms, Age Inference, and Implications for Men’s Health · 2024 · DOI

  • The hypothalamus plays a central role in physiological homeostasis and healthy aging, yet how its cellular and molecular landscape diverges between males and females over the lifespan remains poorly understood.

    Single-cell transcriptomic and epigenomic analysis reveals X-linked sex differences in aging mouse hypothalamus · 2026 · DOI

  • Quantifying the effect empirically usually requires numerous assumptions due to the impact of diplodiploid transmission dynamics, and so the relative contribution of dominance effects to sex chromosome evolution remains unclear.

    Stronger positive and purifying selection on X-linked genes in a species with paternal genome elimination · 2026 · DOI

  • Background and Aims: Dioecy has evolved independently multiple times in Palms, yet the genetic mechanisms underlying sex determination remain poorly understood across the family.

    Genomic insights into sex-linked regions and dioecy in the ivory palm (Phytelephas aequatorialis) · 2026 · DOI

  • The causes of recombination suppression remain debated, but its consequences are increasingly well understood.

    Evolution of sex chromosomes in seed plants · 2026 · DOI

  • The influence of sex chromosomes and sex hormones on early human brain development is poorly understood.

    Transcriptomic sex differences in early human fetal brain development · 2025 · DOI

  • Serine/threonine kinases of the TSSK (Testis-Specific Serine/Threonine Kinase) family play crucial roles in spermatogenesis and male fertility across species, but the underlying regulatory mechanism remains incompletely understood.

    Testis-specific serine/threonine kinase dTSSK2 regulates sperm motility and male fertility in Drosophila · 2025 · DOI

  • While the molecular machinery governing such processes is well characterized in model organisms, the cause of sex-specific lethality due to compensation failure or naturally occurring X monosomy remains unknown.

    X chromosome dosage in respiratory stem cells is critical for post-embryonic development and survival · 2025 · DOI

  • Previous literature has shown that the XCI escapee and epigenetic regulator UTX impacts sex differences in NK cells, however, how UTX impacts CD8+ T cell antitumor response is not yet known.

    The role of UTX in mediating sex differences during the CD8+ T cell antitumor response 3960 · 2025 · DOI

  • It is currently not well understood the role sex chromosomes play in antitumor immunity, however, it is thought that genes that escape X chromosome inactivation (XCI) may play a role.

    The role of UTX in mediating sex differences during the CD8+ T cell antitumor response 3960 · 2025 · DOI

  • While the impact of XCI has been well characterized within the adaptive immune compartment, this has not been well studied in myeloid populations.

    X chromosome inactivation and maintenance in myeloid cell populations 4578 · 2025 · DOI

  • In turtles with temperature-dependent sex determination (TSD), how the female pathway is initiated to induce ovary development remains unknown.

    pSTAT3 activation of Foxl2 initiates the female pathway underlying temperature-dependent sex determination · 2024 · DOI

  • SOX8 was linked in a genome-wide association study to human height heritability, but roles in chondrocytes for this close relative of the master chondrogenic transcription factor SOX9 remain unknown.

    Skeletal growth is enhanced by a shared role for SOX8 and SOX9 in promoting reserve chondrocyte commitment to columnar proliferation · 2024 · DOI

  • Nevertheless, the molecular pathways underlying the embryonic origin of Sertoli cells remain elusive.

    Unveiling the roles of Sertoli cells lineage differentiation in reproductive development and disorders: a review · 2024 · DOI

  • Although female hybrids are sometimes fertile, their chromosome configuration during meiosis has not yet been studied.

    Meiotic deviations and endoreplication lead to diploid oocytes in female hybrids between bighead catfish (Clarias macrocephalus) and North African catfish (Clarias gariepinus) · 2024 · DOI

  • Additionally, the frame-shift mutations of CmFigla were successfully constructed through the CRISPR/Cas9 system, which established a positive foundation for further investigation on the role of Figla in the ovarian development of C.

    Molecular Characterization, Expression Pattern, DNA Methylation and Gene Disruption of Figla in Blotched Snakehead (Channa maculata) · 2024 · DOI

  • There is a need for further research on the association between X-linked ichthyosis and neurological conditions. The study highlights the complexity of X-linked ichthyosis and the need for a better understanding of its underlying mechanisms.

    A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31 deletion fragment · 2026 · DOI

  • The relationship between STS gene deficiency and various neurobehavioral disorders including ADHD and autism spectrum disorder has been identified, but the specific molecular mechanisms linking STS deficiency to these neuropsychiatric manifestations remain unclear.

    A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31 deletion fragment · 2026 · DOI

  • The study identifies a gap in our understanding of sex-influenced DNA methylation in human placental cells. Prior work has not investigated cell-type specific differences in DNA methylation.

    Sex-influenced DNA methylation differs by placental cell type · 2026 · DOI

  • The lack of haplotype-resolved assemblies has limited the study of sex chromosome evolution. The complexity of sex determination mechanisms in plants.

    Sex chromosome evolution mediated by a large inversion and a possible switch of the sex determination gene · 2026 · DOI

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119 open questions have been extracted from the limitations and future-work passages of 387 Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities papers in our library. Each one below links back to the study that raised it, so you can read the original claim in context.

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