Cromosoma 3

Cromosoma 3 humano
Cromosomas humanos do par 3 con bandeado G. En cada individuo un dos cromosomas do par procede da nai e o outro do pai.
Cromosomas do par 3
nun cariograma humano masculino.
Características
Lonxitude (bp)198,295,559 bp
(GRCh38)[1]
No. de xenes1,024 (CCDS)[2]
TipoAutosoma
Posición do centrómeroMetacéntico[3]
(90.9 Mbp[4])
Lista completa de xenes
CCDSLista de xenes
HGNCLista de xenes
UniProtLista de xenes
NCBILista de xenes
Visores de mapa externos
EnsemblCromosoma 3
EntrezCromosoma 3
NCBICromosoma 3
UCSCCromosoma 3
Secuencias de ADN completas
RefSeqNC_000003 (FASTA)
GenBankCM000665 (FASTA)

O cromosoma 3 humano é un cromosoma pertencente a un dos 23 pares de cromosomas humanos. Nas células diploides temos dúas copias deste cromosoma autosómico e nas haploides temos só unha. O cromosoma 3 pola posición do centrómero considérase un cromosoma metacéntrico, xa que aínda que a lonxitude dos seus brazos non é igual, hai pouca diferenza. Comprende 200 millóns de pares de bases, o que supón aproximadamente o 6,5 % do total do ADN da célula.[5]

A identificación dos xenes dun cromosoma é unha área de activa investigación xenética e poden utilizarse diversos métodos para facer as estimacións, polo que as cifras poden variar. Estímase que o cromosoma 3 humano ten probablemente entre 1.100 e 1.500 xenes.

Xenes

Algúns dos xenes situados no cromosoma 3 son os seguintes:

Brazo p (curto)

Brazo q (longo)

  • ADIPOQ: adiponectina
  • CPOX: coproporfirinóxeno oxidase (coproporfiria, harderoporfiria)
  • HGD: homoxentisato 1,2-dioxixenase (homoxentisato oxidase)
  • IFT122: xene 122 do transporte intraflaxelar
  • MCCC1: metilcrotonoil-coencima A carboxilase 1 (alfa)
  • PCCB: propionil coencima A carboxilase, polipéptido beta
  • PDCD10: morte celular programada 10
  • PIK3CA: fosfoinosítido-3-quinase, catalítico, polipéptido alfa
  • RAB7: RAB7, membro da familia RAS de oncoxenes
  • RHO: pigmento visual rodopsina
  • SOX2: factor de transcrición
  • USH3A: síndrome de Usher 3A
  • ZNF9: proteína 9 dedo de cinc (unha proteína celular de unión ao ácido nucleico retroviral)

Enfermidades asociadas

Algunhas das enfermidades asociadas con mutacións nos xenes do cromosoma 3 son as seguintes:[6][7]

  • Hipoplasia pontrocerebelar tipo 2B
  • Deficiencia de biotinidase
  • Susceptibilidade á artrose
  • Resistencia á hormona tiroide
  • GM1-gangliosidose, tipo I, tipo II, tipo III
  • Mucopolisacaridose tipo IVB
  • Condrodisplasia metafisal, tipo Murk Jansen, tipo Blomstrand
  • Síndrome de Eiken
  • Defectos no prosencéfalo
  • Deficiencia de piruvato deshidroxenase E1-beta
  • Ataxia espiñocerebelar 7
  • Refluxo vesicoureteral 2
  • Xordeira, autosómica recesiva 42
  • Cataratas, xuvenil; cataratas conxénitas, cataratas, autosómica dominante, tipos múltiples 1
  • Enfermidade de Hailey-Hailey
  • Blefarofimose, epicanthus inversus, e ptose, tipo 1
  • Insuficiencia ovárica prematura 3
  • Deficiencia de endopeptidadse neutra; glomerulonefrite membranosa, prenatal
  • Peso ao nacer QTL 2
  • Deficiencia de sacarosa-isomaltasa conxénita
  • Diabetes mellitus, non insulino-dependente; síndrome de Fanconi-Bickel
  • Trastorno conxénito de glicosilación, tipo Id
  • Cataratas, cortical polimórfica progresiva
  • Alcaptonuria
  • Autismo.


Notas

  1. "Human Genome Assembly GRCh38 – Genome Reference Consortium". National Center for Biotechnology Information (en inglés). 2013-12-24. Consultado o 2017-03-04. 
  2. "Search results – 3[CHR] AND "Homo sapiens"[Organism] AND ("has ccds"[Properties] AND alive[prop]) – Gene". NCBI. CCDS Release 20 for Homo sapiens. 2016-09-08. Consultado o 2017-05-28. 
  3. Tom Strachan; Andrew Read (2 April 2010). Human Molecular Genetics. Garland Science. p. 45. ISBN 978-1-136-84407-2. 
  4. Genome Decoration Page, NCBI. Ideogram data for Homo sapiens (850 bphs, Assembly GRCh38.p3). Última actualización 2014-06-03. Consultado o 2017-04-26.
  5. Genetic Home Reference Chromosome 3
  6. NCBI Mapa cromosómico. Cromosoma 3
  7. NCBI Mapas cromosómicos

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