Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/39373
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Type: Journal article
Title: Isolation of chromosomal regions controlling intersex development in a marsupial
Author: Santucciu, C.
Grutzner, F.
Carvalho-Silva, D.
Graves, J.
Citation: Cytogenetic and Genome Research, 2003; 101(3-4):224-228
Publisher: Karger
Issue Date: 2003
ISSN: 1424-8581
1424-859X
Statement of
Responsibility: 
C. Santucciu, F. Grützner, D.R. Carvalho-Silva and J.A.M. Graves
Abstract: A marsupial (Sminthopsis douglasi) with bilateral intersexuality had a hemiscrotum on the right side and a hemi-pouch with nipples on the left. A normal female karyotype (2n = 14, XX) was present in cells from the right (male) side, while cells from the left (female) side initially had a female karyotype plus two dot-like chromosomes (2n = 14, XX + 2B). It is proposed that the dots represented a region deleted from the X chromosome that contains the "pouch-mammary/scrotum" (PMS) switch gene whose dosage determines development of a pouch and teats (two doses) or a scrotum (one dose). Mis-segregation early in embryonic development produced a lineage with one normal X and one deleted X (male side), and a lineage with a normal and deleted X, plus two copies of the deleted region (female side). The origin of the supernumerary elements was therefore investigated in the expectation that they may contain the long-sought pouch-mammary/scrotum switch gene. Several elements were microdissected, and amplified DNA was used for in situ hybridization, producing signals in five different chromosome regions including the X. This could represent a region of the X that contains, as well as PMS, repetitive DNA that is present also at other chromosomal sites.
Keywords: Cell Line; Chromosomes, Mammalian; X Chromosome; Animals; Marsupialia; In Situ Hybridization, Fluorescence; Karyotyping; Sex Differentiation; Models, Genetic; Female; Male; Disorders of Sex Development; Sex Determination Processes
RMID: 0020072944
DOI: 10.1159/000074341
Appears in Collections:Molecular and Biomedical Science publications
Environment Institute Leaders publications

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