Características de regiões medicamente relevantes do cromossomo foram reveladas na pesquisa que poderá ajudar a orientar investigações sobre fertilidade
No ano passado, cientistas impressionaram o mundo ao apresentar a sequência mais completa já produzida do genoma humano. No entanto, faltava uma peça crucial para resolver o quebra-cabeça genético: o cromossomo Y. E, agora, o trabalho acaba de ser concluído e descrito em um artigo publicado nesta quarta-feira (23) na revista Nature.
Os pesquisadores revelaram a primeira sequência completa do cromossomo Y humano, que é um dos dois cromossomos sexuais – sendo o cromossomo X o outro – e é geralmente transmitido do pai para o filho. Ele é o último dos 24 cromossomos – estruturas filamentosas que carregam informações genéticas de célula para célula – no genoma humano a ser sequenciado.
Nós, seres humanos, temos um par de cromossomos sexuais em cada célula. Os homens possuem um cromossomo Y e um cromossomo X, enquanto as mulheres têm dois cromossomos X, com algumas exceções.
s genes do cromossomo Y ajudam a governar funções reprodutivas cruciais, incluindo a produção de esperma, formalmente chamada de espermatogênese, e estão até envolvidos no risco e na gravidade do câncer. Mas esse cromossomo havia se mostrado difícil de ser decifrado devido à sua estrutura excepcionalmente complexa.
“Eu atribuiria isso às novas tecnologias de sequenciamento e métodos computacionais”, disse Arang Rhie, um cientista do Instituto de Pesquisa do Genoma Humano Nacional dos EUA e autor principal de um artigo de pesquisa que detalha a conquista na revista Nature.
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A sequência completa do cromossomo X foi publicada em 2020. Mas até agora, a parte do cromossomo Y do genoma humano continha grandes lacunas. O trabalho revelou características de regiões medicamente relevantes do cromossomo Y, incluindo um trecho de DNA contendo vários genes envolvidos na produção de espermatozoides.
A nova compreensão mais completa dos genes do cromossomo Y oferece promessas para aplicações práticas, incluindo pesquisas relacionadas à fertilidade, segundo os pesquisadores.
Além de identificar alguns genes adicionais do cromossomo Y, os pesquisadores descobriram que parte do DNA do cromossomo havia sido erroneamente considerada de origem bacteriana em estudos anteriores.
Os cientistas continuam ampliando a compreensão da genética humana. Um primeiro mapeamento do genoma humano foi revelado em 2003.
O primeiro genoma humano completo – embora com apenas uma parte do cromossomo Y – foi publicado no ano passado. Em maio, os pesquisadores publicaram uma nova versão do genoma que melhorou seu antecessor ao incluir uma diversidade ampla de pessoas para refletir melhor a população global de 8 bilhões de indivíduos.
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