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Hum Mol Genet ; 2(10): 1571-5, 1993 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-8268908

RESUMO

Chromosomal aneusomy is a major cause of reproductive wastage and congenital malformations in man. Zinc finger encoding genes would be good candidates for being involved in the multiple developmental defects associated with chromosomal aneusomy--by virtue of their role as transcriptional regulators, their abundance in the genome and their known association with specific developmental disorders. We have isolated and mapped a zinc finger encoding cDNA (ZNF141) of the C2-H2/KRAB subfamily to the 4p- (Wolf-Hirschhorn) syndrome (WHS) chromosome region. ZNF141 mapped to the distal end of the 2.2 Mb smallest region of deletion overlap of WHS, 300 kb from the 4p telomere on cosmid CD1 defining the anonymous locus D4S90. ZNF141 was expressed ubiquitously at low levels in the analysed tissue. The identification of a candidate gene for a chromosomal aneusomy syndrome belonging to a class of evolutionary conserved genes will provide options for studying its normal and abnormal expression during mammalian embryogenesis.


Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas/genética , Deleção Cromossômica , Cromossomos Humanos Par 4/ultraestrutura , Genes , Dedos de Zinco/genética , Adulto , Sequência de Aminoácidos , Sequência de Bases , Transtornos Cromossômicos , Expressão Gênica , Humanos , Dados de Sequência Molecular , Síndrome
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