Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.
Nat Genet
; 2(4): 305-10, 1992 Dec.
Article
em En
| MEDLINE
| ID: mdl-1303284
ABSTRACT
The gene for the X-linked Kallmann syndrome (KAL), a developmental disorder characterized by hypogonadotropic hypogonadism and anosmia, maps to Xp22.3 and has a homologous locus, KALP, on Yq11. We show here that KAL consists of 14 exons spanning 120-200 kilobases that correlate with the distribution of domains in the predicted protein including four fibronectin type III repeats. The KALP locus reveals several large deletions and a number of small insertions, deletions and base substitutions which indicate it is a non-processed pseudogene. The sequence divergence between KAL and KALP in humans, and the chromosomal location of KAL homologous sequences in other primates, suggest that KALP and the steroid sulphatase pseudogene on Yq11 were involved in the same rearrangement event on the Y chromosome during primate evolution.
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Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Cromossomo Y
/
Síndrome de Kallmann
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
1992
Tipo de documento:
Article