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A human mosaic involving eye and hair color differences

Published online by Cambridge University Press:  01 August 2014

Y. R. Ahuja
Y. R. Ahuja*
Affiliation:
Department of Genetics University of California Berkeley, California

Summary

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An individual mosaic for eye and hair color is described. Possibly the subject is heterozygous at a single locus with pleiotropic effects on both hair and eye color. It is proposed that a genetic change, most probably a point mutation, occurred in a prospective melanoblast during early development. Migration of the derivatives of this cell from the neural crest into the affected regions would account for the light-colored hair and eye. It is not likely that the present mosaic condition will be transmitted because it is most probably a case of somatic mosaicism.

Riassunto

Riassunto

Viene descritto un mosaico individuale per il colore degli occhi e dei capelli. Il soggetto è probabilmente eterozigotico ad un solo locus con effetti pleiotropici sul colore di occhi e capelli. Si suppone che abbia avuto luogo un cambio genetico, e probabilmente una mutazione a punta in un melanoblasto prospettivo durante il primo sviluppo embrionale. La migrazione dei derivati di questa cellula dalla cresta neurale nelle regioni affette spiegherebbe il colore chiaro dei capelli e degli occhi. Non sembra che la pre:ente condizione mosaica potrà essere trasmessa perchè, probabilmente, è un caso di mosaicismo somatico.

Résumé

RÉSUMÉ

L'on décrit un cas mosaïque individuel pour la couleur des yeux et des cheveux. Il est probable que le sujet soit hétérozygote pour un locus qui a des effets pléiotropiques sur la couleur des cheveux et des yeux. Nous croyons qu'une mutation de points a eu lieu au commencement du développement embryonnaire dans un mélanoblaste prospectif. La migration des descendants de cette cellule de la crête neurale aux régions affectées serait la cause des cheveux blonds et de l'iris bleu. Une transmission héréditaire de cette condition mosaïque n'est pas en question, parce qu'il s'agit probablement d'un mosaïcisme somatique.

Zusammenfassung

ZUSAMMENFASSUNG

Es wird ein Fall mit Augen-und Haarfarbenmosaik beschrieben. Die Ursache dieses Mosaiks duerfte eine Heterozygotie eines einzelnen Genlokus mit pleiotroper Wirkung auf Haar-und Augenfarbe sein. Am ehesten muss eine Punktmutation eines prospectiven Melanoblas-ten in der fruehembryonalen Entwicklung angenommen werden. Migration der Abkoemm-linge dieser Zelle aus der Neuraileiste in die betroffenen Gebiete waere dann verantwortlich fuer das blond Haar und die blaue Iris. Es ist zu vermuten, dass sich dieses Mosaik nicht vererbt, da es sich sehr wahrscheinlich um eine somatische Mutation handelt.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 9 , Issue 4 , October 1960 , pp. 427 - 431
Copyright
Copyright © The International Society for Twin Studies 1960

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