Perfect and imperfect views of ultraconserved sequences.
Nat Rev Genet
; 23(3): 182-194, 2022 03.
Article
em En
| MEDLINE
| ID: mdl-34764456
ABSTRACT
Across the human genome, there are nearly 500 'ultraconserved' elements regions of at least 200 contiguous nucleotides that are perfectly conserved in both the mouse and rat genomes. Remarkably, the majority of these sequences are non-coding, and many can function as enhancers that activate tissue-specific gene expression during embryonic development. From their first description more than 15 years ago, their extreme conservation has both fascinated and perplexed researchers in genomics and evolutionary biology. The intrigue around ultraconserved elements only grew with the observation that they are dispensable for viability. Here, we review recent progress towards understanding the general importance and the specific functions of ultraconserved sequences in mammalian development and human disease and discuss possible explanations for their extreme conservation.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Genoma
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Sequência Conservada
Limite:
Animals
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Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article