Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Articles Article Faculty Publications -Articles Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Appraisal of prolyl 4-hydroxylase alpha subunit gene polymorphisms in Spondyloepimetaphyseal dysplasia of Handigodu type (SEMDHG) Subject The topic of the resource 4-hydroxyproline; Collagen; Handigodu; Prolyl 4-hydroxylase; Spondyloepimetaphyseal dysplasia Description An account of the resource Background: The Handigodu variant of Spondyloepimetaphyseal Dysplasia (SEMDHG) is a severe, progressive osteoarthritic disorder characterized by chronic pain and joint degeneration. Clinically, the disorder presents in three distinct phenotypic forms, each exhibiting varying degrees of stature reduction and disease severity. Urine analysis of affected individuals reveals an elevated peptide-bound proline to 4-hydroxyproline ratio relative to controls, suggesting disruptions in collagen metabolism. Given the critical role of prolyl 4-hydroxylase enzymes in stabilizing collagen structure, this study undertook a comprehensive sequence analysis of all three isoforms of prolyl 4-hydroxylase in both affected and unaffected individuals to elucidate potential molecular underpinnings of the disorder. Method: The entire exonic regions and 2000 base pairs upstream of the translation start sites of the P4HA1, P4HA2, and P4HA3 genes were sequenced in a cohort of 300 individuals, comprising 166 affected and 134 unaffected individuals. Results: Sequence analysis of the ? (I), ? (II), and ? (III) subunit genes identified three novel SNPs and a 39-bp deletion variant, in addition to ten previously reported SNPs catalogued in dbSNP. The SNP rs28384495 in P4HA1, the 39-bp deletion variant, and a novel mutation (SNP3) in P4HA3 exhibited significantly different allele frequencies between patients and controls. Genotype association analysis revealed that SNPs in P4HA1 and P4HA3 were associated with Type 2 and Type 3 HD under various genetic models. Notably, all Type 2 HD patients were heterozygous for the 39-bp deletion, whereas all Type 3 HD patients were homozygous for the variant. Haplotype analysis corroborated the findings of the genotype association analysis. Conclusion: This study is the first to account an association between the P4H gene and disease. Further research is needed to evaluate the functional implications of the identified mutations. 2024 Creator An entity primarily responsible for making the resource Venugopal P.N.; Rao I.A.; Mollick S.A.; Chandrasekar A. Source A related resource from which the described resource is derived Human Gene, Vol-43 Publisher An entity responsible for making the resource available Elsevier B.V. Date A point or period of time associated with an event in the lifecycle of the resource 2025-01-01 Identifier An unambiguous reference to the resource within a given context <a href="https://doi.org/10.1016/j.humgen.2025.201387" target="_blank" rel="noreferrer noopener">https://doi.org/10.1016/j.humgen.2025.201387</a> <br /><br /><a href="https://www.scopus.com/inward/record.uri?eid=2-s2.0-85216883798&amp;doi=10.1016%2Fj.humgen.2025.201387&amp;partnerID=40&amp;md5=de31c42bb8329ff36f32463273975c87" target="_blank" rel="noreferrer noopener">https://www.scopus.com/inward/record.uri?eid=2-s2.0-85216883798&amp;doi=10.1016%2fj.humgen.2025.201387&amp;partnerID=40&amp;md5=de31c42bb8329ff36f32463273975c87</a> Rights Information about rights held in and over the resource Restricted Access Relation A related resource ISSN: 27730441 Format The file format, physical medium, or dimensions of the resource Online Language A language of the resource English Type The nature or genre of the resource Article Coverage The spatial or temporal topic of the resource, the spatial applicability of the resource, or the jurisdiction under which the resource is relevant Venugopal P.N., Anthropological Survey of India, Southern Regional Centre, Karnataka, Mysore, India; Rao I.A., Department of Life Sciences, Christ University, Karnataka, Bengaluru, India; Mollick S.A., Anthropological Survey of India, Southern Regional Centre, Karnataka, Mysore, India; Chandrasekar A., Anthropological Survey of India, Southern Regional Centre, Karnataka, Mysore, India