Cromossoma 2

Par de cromossoma 2
Cromossomo 2 e seus respectivos loci

O cromossoma 2 é um dos 23 pares de cromossomas do cariótipo humano. É o segundo maior cromossoma humano. Tem cerca de 237 milhões de pares de bases e representa quase 8% do total de DNA nas células. Contém entre 1300 e 2000 genes.

Evolução

O Cromossomo 2 é amplamente aceito como resultado de uma fusão telômero-telômero entre dois cromossomos ancestrais. As evidências disso incluem:

Fusão de cromossomos ancestrais deixaram vestígios de de telômeros e um centrômero vestigial
  • A correspondência do cromossomo 2 com dois cromossomos de símios. O parente mais próximo do homem, o chimpanzé, tem seqüências de DNA quase totalmente idênticas ao cromossomo 2 humano porém em dois cromossomos separados. O mesmo é fato para mais distantes como o gorila e o orangotango.
  • A presença de um centrômero vestigial. Normalmente um cromossomo possui apenas um centrômero mas no cromossomo 2 encontram-se vestígios de um segundo.
  • A presença de telômeros vestigiais. Esses são normalmente encontrados apenas nos finais do cromossomo mas no cromossomo 2 encontramos seqüências de telômeros no meio.

O cromossomo 2 é, assim, forte evidência da origem comum de humanos e outros primatas. Segundo o pesquisador J. W. IJdo:

"Nós concluimos que o locus clonado nos cosmídios c8.1 e c29B é a lembrança de uma antiga fusão telômero-telômero e marca o ponto em que dois cromossomos simiescos ancestrais fundiram-se originando o cromossomo 2 humano."

Genes

Alguns dos genes localizados no cromossoma 2:

Locus Genes Descrição
2q37.3 AGXT alanina-glioxilato aminotransferase
2p13 ALMS1 síndrome de alstrom 1
2q33.1 ALS2 esclerose lateral amiotrófica 2
2q31 COL3A1 colágeno, tipo 3, alfa 1
2q36-q37 COL4A3 colágeno, tipo 4, alfa 3
2q35-37 COL4A4 colágeno, tipo 4, alfa 4
2q14-q32 COL5A2 colágeno, tipo 5, alfa 2
2p23 HADHA hidroxiacil-coenzima a desidrogensase subunidade alfa
2p23 HADHB hidroxiacil-coenzima a desidrogenase subunidade beta
2q22-q23 NR4A2 receptor nuclear, subfamília 4, grupo A, membro 2
2p23.1 OTOF otoferlina
2p25 TPO peroxidase da tireóide

Doenças

Algumas das doenças relacionadas com genes localizados no cromossoma 2:

Referências

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