TY - JOUR
T1 - Isolation of chromosomal regions controlling intersex development in a marsupial
AU - Santucciu, C.
AU - Grützner, F.
AU - Carvalho-Silva, D. R.
AU - Graves, J. A.M.
PY - 2003
Y1 - 2003
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0346058032&partnerID=8YFLogxK
U2 - 10.1159/000074341
DO - 10.1159/000074341
M3 - Article
SN - 1424-8581
VL - 101
SP - 224
EP - 228
JO - Cytogenetic and Genome Research
JF - Cytogenetic and Genome Research
IS - 3-4
ER -