SHORT REPORTSFamilial erythrocytosis genetically linked to erythropoietin receptor gene
References (7)
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Familial and congenital polycythemia in three unrelated families
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Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin
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Genomic organization of the human erythropoietin receptor gene
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Cited by (71)
Advances in sports genomics
2022, Advances in Clinical ChemistryCitation Excerpt :Therefore, very large sample sizes are needed to detect associations and various combinatorial approaches should be used [317]. On the other hand, since sport-related DNA polymorphisms do not fully explain the heritability of athlete status, other forms of variation, such as rare mutations [318,319] and epigenetic markers (i.e., stable and heritable changes in gene expression) [320], must be considered. The issues with respect to appropriate study designs, sample size, population stratification and quality of the genotype/phenotype measurement are also of great importance.
Update on mutations in the HIF: EPO pathway and their role in erythrocytosis
2019, Blood ReviewsCitation Excerpt :The study of erythrocytosis has informed our understanding of the HIF: EPO pathway. In pioneering work, de la Chapelle and colleagues carried out linkage analysis in a large family with known clinical and genealogical features, using a highly informative simple sequence repeat polymorphism in the 5′ region of the EPOR gene [17]. They found a highly significant linkage pointing to a mutation in the EPOR gene as the most probable cause of the disease phenotype in the family.
Introduction to genetics of sport and exercise
2019, Sports, Exercise, and Nutritional Genomics: Current Status and Future DirectionsInherited primitive and secondary polycythemia
2016, Revue de Medecine InterneNew mutations and pathogenesis of myeloproliferative neoplasms
2011, BloodCitation Excerpt :The hallmark of these disorders is an increased production of mature blood cells. In some instances, a single germline mutation can induce thrombocytosis, erythrocytosis, or neutrophilia.155-161 In inherited diseases, all HSC carry the mutation, whereas in sporadic MPNs the signaling mutation (JAK2V617F, MPLW515L, or BCR-ABL) is acquired by a HSC that must compete with wild-type HSCs.
The Human Genome and Sport, Including Epigenetics, Gene Doping, and Athleticogenomics
2010, Endocrinology and Metabolism Clinics of North AmericaCitation Excerpt :In a different context, the syrinx vocal organ of the ringdove contains superfast muscles31 and one wonders if its code and accessories might be adapted for use in some future human sprinters? The 1960 and 1964 Nordic-skiing triple-Olympic champion, Eero Maentyranta, and his family members were shown (more than 30 years after his wins and after technical advances) to possess a favorably mutated EPO receptor gene,26,32,33 which increased their hemoglobin to a family mean of 204 g/L−1 (183–231 g/L−1) compared with unaffected members' 154 g/L−1 (136–174 g/L−1)—a significant increase in oxygen transport in debatably the most aerobic of all sports. Regarding the gene for EPO itself, in mice and primates, the hematocrit has been shown to rise, from 50% and 40%, respectively, to approximately 70%, for 4 and 6 months, after a single injection of an EPO gene.