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Biochemistry, Genetics and Molecular Biology · Research topic

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

262 gap statements mined from Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities papers in our 7.9M-paper local library, which holds 1,071 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • The functional effect of the NKAP frameshift variant was unknown. The role of NKAP in X-chromosome inactivation and cell death was not fully understood.

    A Novel NKAP Gene Frameshift Mutation in a Sardinian Family Causes Early Cell Death and Secondary Skewed X-Chromosome Inactivation and Associates with Multiple Male Miscarriages · 2026 · DOI

  • There is a lack of functional studies of the WIF1 gene in agricultural animals, especially those related to follicular development. The expression and function of WIF1 in chickens are not well understood. The molecular mechanisms underlying the regulation of follicular development by WIF1 are not clear.

    Regulation of Follicular Development in Chickens: WIF1 Modulates Granulosa Cell Proliferation and Progesterone Synthesis via Wnt/β-Catenin Signaling Pathway · 2024 · DOI

  • Although the genetic basis of sexual traits has been investigated in diverse species, how the underlying regulatory systems evolve during the gain or loss of sexual dimorphism within a species remains poorly understood.

    Sex‐Specific doublesex Regulation Targeting the Color‐Patterning Gene h Underlies the Evolution of Wing Sexual Dimorphism in the Harlequin Ladybug Harmonia axyridis · 2026 · DOI

  • Reliable tools for the identification of genetic sex are invaluable in many fields of biology, but their design requires knowledge of sex-linked sequences, which is lacking in many taxa.

    Linkage Mapping vs. Association: A Comparison of Two RADseq ‐Based Approaches to Identify Markers for Homomorphic Sex Chromosomes in Large Genomes · 2025 · DOI

  • Loss of chromosome Y (LOY) occurs in aging and cancers, but its extent and implications in human embryonic stem cells (hESCs) have not been studied.

    Large-scale analysis of loss of chromosome Y in human pluripotent stem cells: Implications for Turner syndrome and ribosomopathies · 2025 · DOI

  • The co-occurrence of hepatic haemangiomas, mixed-phenotype acute leukaemia in TS, and the karyotypes (48,XXY,+21) of patient with intracranial germ cell tumours have not been previously reported.

    Tumours in children and adolescents with Turner syndrome and Klinefelter syndrome: a retrospective Chinese cohort study · 2025 · DOI

  • Despite their critical roles in genetic sex determination, sex chromosomes remain unknown in many non-model organisms, especially those having recently evolved sex-linked regions (SLRs).

    SLRfinder : A method to detect candidate sex‐linked regions with linkage disequilibrium clustering · 2024 · DOI

  • The consequences of this abnormal gene expression in follicles for Turner syndrome patients remain to be investigated, but they are likely to affect fertility.

    Gene expression analysis of ovarian follicles and stromal cells in girls with Turner syndrome · 2024 · DOI

  • Transcriptomic data have been used to study sex chromosome dosage compensation (SCDC) in approximately 10 Lepidoptera ZW species, yielding a consensus compensation pattern of Z It remains unclear whether this compensation pattern holds when examining more Lepidoptera ZW species and/or using proteomic data to analyse SCDC.

    Transcriptomic and proteomic elucidation of Z chromosome dosage compensation in Helicoverpa armigera · 2024 · DOI

  • Genetic factors explain 20-30% of POI cases, but most causes remain unknown despite genomic advancements.

    Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis · 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

  • Growing evidence suggests that growth impairment is an integral part of the clinical spectrum of Xp22.31 microdeletion syndrome, but the mechanisms by which loss of adjacent genes or regulatory elements contributes to developmental and growth delays requires further investigation.

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

  • 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

  • There is a lack of understanding of the genetic mechanisms underlying azoospermia in males with a 45,X karyotype. Rare chromosomal translocations, such as the one identified in this study, are difficult to detect using conventional G-banding.

    Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in an azoospermic patient using C-MoKa · 2026 · DOI

  • The inconsistent nomenclature and the ongoing lack of universally accepted diagnostic criteria. The need to evaluate FOXL2 expression across a broader spectrum of gonadal phenotypes.

    FOXL2 expression in dysgenetic gonads supports the diagnostic possibility of ovotesticular differences of sex development · 2026 · DOI

  • The diagnostic utility of FOXL2 in pediatric DSD patients remains underexplored. There is a need to evaluate FOXL2 expression across a broader spectrum of gonadal phenotypes.

    FOXL2 expression in dysgenetic gonads supports the diagnostic possibility of ovotesticular differences of sex development · 2026 · DOI

  • The study highlights the need for further research on the role of TEX43 in spermatogenesis and fertility.

    TEX43, a testis-enriched microtubule-associated gene, exerts minimal impact on spermatogenesis and fertility in mice and humans · 2026 · DOI

  • There is a need for more research on the effects of chromosome number anomalies on individuals and society. The paper identifies gaps in current knowledge and practice, including the need for more effective prenatal screening strategies and more comprehensive support services.

    Kromozom Sayısı Kaynaklı Hastalıklar Nelerdir ve Doğru Entegrasyon Nasıl Olmalı? · 2026 · DOI

  • The lack of understanding of the molecular mechanisms underlying sexual chromosome aneuploidies. The need for early diagnosis and intervention to mitigate the impact of these aneuploidies. The complexity of the genomic spectrum of sexual chromosome aneuploidies.

    Síndrome de Klinefelter y aneuploidías de cromosomas sexuales de alto orden en varones · 2026 · DOI

  • The study is limited by the lack of longitudinal prospective studies on sexual chromosome aneuploidies. The majority of studies are based on patients identified in hospital centers, which may not be representative of the general population. The study highlights the need for further research on the molecular mechanisms underlying these aneuploidies.

    Síndrome de Klinefelter y aneuploidías de cromosomas sexuales de alto orden en varones · 2026 · DOI

  • Gln329* truncating variant; the transcriptome‑wide consequences of the missense variants remain to be defined. Several limitations of this study should be acknowledged.

    Functional and transcriptomic insights into 46,XY disorders of sex development associated with NR5A1 gene variants · 2026 · DOI

  • The assembly and annotation pipeline did not characterize genomic islands of differentiation or candidate loci under selection related to heavy metal accumulation and parasite resistance, despite documented occurrence of these traits in wild S. melanotheron populations from polluted West African ecosystems. Population genomic scans using FST-based approaches should identify adaptive loci.

    Chromosome-level genome assembly of the blackchin tilapia (Sarotherodon melanotheron) · 2026 · DOI

  • The Hi-C scaffolding approach achieved chromosome-level assembly but did not investigate sex chromosome structure or sex-determining regions, despite evidence of environmental sex determination and biparental oral-brooding behavior variation in S. melanotheron populations. Comparative analysis of sex-linked genomic regions across environmental gradients should be performed.

    Chromosome-level genome assembly of the blackchin tilapia (Sarotherodon melanotheron) · 2026 · DOI

  • Further study of the evolution of sex determination mechanisms in plants. Investigation of the role of PISTILLATA in sex determination in other plant species.

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

Most-cited papers in Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

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Open questions raised by papers listed on this page include: (1) The role of NKAP in X-chromosome inactivation and cell death was not fully understood (“A Novel NKAP Gene Frameshift Mutation in a Sardinian Family Causes Early Cell…”, 2026); (2) Although the genetic basis of sexual traits has been investigated in diverse species, how the underlying regulatory systems evolve during the gain or loss of sexual dimorphism within a species remains poorly understood (“Sex‐Specific doublesex Regulation Targeting the Color‐Patterning Gene h…”, 2026); (3) There is a need for further research on the association between X-linked ichthyosis and neurological conditions (“A case report of X-linked ichthyosis associated with epilepsy due to an Xp22.31…”, 2026); (4) The lack of haplotype-resolved assemblies has limited the study of sex chromosome evolution (“Sex chromosome evolution mediated by a large inversion and a possible switch of…”, 2026); (5) There is a lack of understanding of the genetic mechanisms underlying azoospermia in males with a 45,X karyotype (“Identification a rare chromosomal translocation 45,X, der(Y;15)(q11.2;q11.2) in…”, 2026). 262 gap statements have been mined from Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities papers in our 7.9M-paper local library, which holds 1,071 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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