The chocolate plumage color in chickens is due to a sex-linked recessive mutation, choc, which dilutes eumelanin pigmentation. Because TYRP1 is sex-linked in chickens, and TYRP1 mutations determine brown coat color in mammals, TYRP1 appeared as the obvious candidate gene for the choc mutation. By combining gene mapping with gene capture, a complete association was identified between the chocolate phenotype and a missense mutation leading to a His214Asn change in the ZnA zinc-binding domain of the protein. A diagnostic test confirmed complete association by screening 428 non-chocolate chickens of various origins. This is the first TYRP1 mutation described in the chicken. Electron microscopy analysis showed that melanosomes were more numerous in feather follicles of chocolate chickens but exhibited an abnormal structure characterized by a granular content and an irregular shape. A similar altered morphology was observed on melanosomes of another TYRP1 mutant in birds, the roux mutation of the quail.
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DNA Repair (Amst)
January 2025
Cancer Cytogenomic Laboratory, Center for Research and Drug Development (NPDM), Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program in Medical Science, Federal University of Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Pathology, Federal University of Ceara, Fortaleza, Ceara, Fortaleza, Ceara, Brazil; Post-Graduate Program of Translational Medicine, Federal University of Ceara, Fortaleza, Ceara, Brazil.
Myelodysplastic Neoplasm (MDS) is a cancer associated with aging, often leading to acute myeloid leukemia (AML). One of its hallmarks is hypermethylation, particularly in genes responsible for DNA repair. This study aimed to evaluate the methylation and mutation status of DNA repair genes (single-strand - XPA, XPC, XPG, CSA, CSB and double-strand - ATM, BRCA1, BRCA2, LIG4, RAD51) in MDS across three patient cohorts (Cohort A-56, Cohort B-100, Cohort C-76), using methods like pyrosequencing, real-time PCR, immunohistochemistry, and mutation screening.
View Article and Find Full Text PDFNeuropsychiatr Dis Treat
January 2025
Department of Neurology, Affiliated Hospital of Jining Medical University, Jining, Shandong, 272029, People's Republic of China.
Background: The clinical pictures of essential tremor (ET) and Parkinson's disease (PD) are often quite mimic at the early stage, and longstanding ET may ultimately develop to PD, that is, PD with "antecedent ET". Early diagnosis and differentiation of the two are essential for predicting disease progression and formulating individualized treatment plans. However, current approaches remain challenging.
View Article and Find Full Text PDFWorld J Pediatr Congenit Heart Surg
January 2025
Division of Cardiothoracic Surgery, The Heart Institute, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.
The authors present an exceptionally rare case of a newborn in whom total anomalous pulmonary venous return (TAPVR) had been diagnosed prenatally and in whom genetic testing after neonatal cardiac repair confirmed a missense variant of the gene consistent with Marfan syndrome as well as a gene mutation associated with severe combined immunodeficiency. To the authors' knowledge, this is the first reported case with this unique combination. Neonatal TAPVR repair was undertaken with a good postoperative outcome and survival until the last follow-up.
View Article and Find Full Text PDFThe expression of genomically-encoded information is not error-free. Transcript-error rates are dramatically higher than DNA-level mutation rates, and despite their transient nature, the steady-state load of such errors must impose some burden on cellular performance. However, a broad perspective on the degree to which transcript-error rates are constrained by natural selection and diverge among lineages remains to be developed.
View Article and Find Full Text PDFCurr Res Struct Biol
June 2025
The College of Health Humanities, Jinzhou Medical University, Jinzhou, 121001, China.
The change in the three-dimensional (3D) structure of a protein can affect its own function or interaction with other protein(s), which may lead to disease(s). Gene mutations, especially missense mutations, are the main cause of changes in protein structure. Due to the lack of protein crystal structure data, about three-quarters of human mutant proteins cannot be predicted or accurately predicted, and the pathogenicity of missense mutations can only be indirectly evaluated by evolutionary conservation.
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