Paulo Otto
| Paulo Otto | |
|---|---|
| Born | Paulo Alberto Otto June 16, 1944 Sao Paulo, Brazil |
| 🏳️ Nationality | Brazilian |
| 🏫 Education | BA in Natural History, M.D., Msc and Ph.D. in Genetics |
| 💼 Occupation | Geneticist |
| Known for | Santos Syndrome, Academic books, Population genetics |
Paulo Otto (born June 16, 1944, Rio de Janeiro, Brazil) is a Brazilian medical geneticist and Retired Full Professor, reference in human, medical, and population genetics. He is recognized for his academic contributions, new syndromes discovery, and teaching activities at the Institute of Biosciences of the University of São Paulo (USP).
Otto, together with Professor John Marius Opitz, was the first to describe Santos syndrome (OMIM #613005) caused by a homozygous mutation in WNT7A, discovered by researcher Silvana Santos in the community of Riacho dos Cavalos, Paraíba state, Brazil.[1] This condition causes severe congenital limb deformities.[2] In 1976, he described, along with Mayana Zatz, a new form of hereditary spastic paraplegia known as SPG34 (#300750).[3] In 2006, he discovered a novel intellectual disabillity syndrome (#312180) caused by a homozygous mutation in the UBE2A gene.[4][5]
Early life and education
Otto graduated in Medicine from the Federal University of the State of Rio de Janeiro in 1968 and in Natural History from the Rio de Janeiro State University (UERJ) in 1971. He earned his master's degree in Genetics, in 1975, and his PhD in the same field in 1977, both from the USP. He completed several postdoctoral fellowships in population genetics, including at the University of Wisconsin (USA) in the laboratory of Professor James F. Crow (1980-81, 1992-94).[6]
References
- ↑ Alves, Leandro U; Santos, Silvana; Musso, Camila M; Ezquina, Suzana AM; Opitz, John M; Kok, Fernando; Otto, Paulo A; Mingroni-Netto, Regina C (December 2017). "Santos syndrome is caused by mutation in the WNT7A gene". Journal of Human Genetics. 62 (12): 1073–1078. doi:10.1038/jhg.2017.86. PMID 28855715.
- ↑ Santos, Silvana C.; Pardono, Eliete; Ferreira da Costa, Maria Ione; de Melo, Aurea Nogueira; Graciani, Zodja; de Albuquerque e Souza, Alessandra Cavalcanti; Lezirovitz, Karina; Thiele-Aguiar, Renata Soares; Mingroni-Netto, Regina Célia; Opitz, John M.; Kok, Fernando; Otto, Paulo A. (15 December 2008). "A previously undescribed syndrome combining fibular agenesis/hypoplasia, oligodactylous clubfeet, anonychia/ungual hypoplasia, and other defects". American Journal of Medical Genetics Part A. 146A (24): 3126–3131. doi:10.1002/ajmg.a.32580. PMID 19012338.
- ↑ Zatz, M; Penha-Serrano, C; Otto, P A (1 June 1976). "X-linked recessive type of pure spastic paraplegia in a large pedigree: absence of detectable linkage with Xg". Journal of Medical Genetics. 13 (3): 217–222. doi:10.1136/jmg.13.3.217. PMC 1013396. PMID 1084423.
- ↑ Nascimento, Rafaella M.P.; Otto, Paulo A.; de Brouwer, Arjan P.M.; Vianna-Morgante, Angela M. (September 2006). "UBE2A, Which Encodes a Ubiquitin-Conjugating Enzyme, Is Mutated in a Novel X-Linked Mental Retardation Syndrome". The American Journal of Human Genetics. 79 (3): 549–555. doi:10.1086/507047. PMID 16909393.
- ↑ de Oliveira, Juliana Ferreira; do Prado, Paula Favoretti Vital; da Costa, Silvia Souza; Sforça, Mauricio Luis; Canateli, Camila; Ranzani, Americo Tavares; Maschietto, Mariana; de Oliveira, Paulo Sergio Lopes; Otto, Paulo A.; Klevit, Rachel E.; Krepischi, Ana Cristina Victorino; Rosenberg, Carla; Franchini, Kleber Gomes (January 2019). "Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability". Nature Chemical Biology. 15 (1): 62–70. doi:10.1038/s41589-018-0177-2. PMC 6626659 Check
|pmc=value (help). PMID 30531907. - ↑ Otto, Paulo A. (2012). "In memory of James F. Crow (1916-2012), a life dedicated to population genetics; with an updated list of his publications". Genetics and Molecular Biology. 35 (1): 200–201. doi:10.1590/S1415-47572012000100028. ISSN 1415-4757. PMC 3324105. PMID 22505836.
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