2007 ◽  
Vol 8 (1) ◽  
pp. 58 ◽  
Author(s):  
Mark W Murphy ◽  
David Zarkower ◽  
Vivian J Bardwell
Keyword(s):  

2000 ◽  
Vol 85 (9) ◽  
pp. 3094-3100 ◽  
Author(s):  
Koji Muroya ◽  
Torayuki Okuyama ◽  
Keiji Goishi ◽  
Yoshifumi Ogiso ◽  
Shin Fukuda ◽  
...  

Abstract We report on clinical and molecular findings in five karyotypic males (cases 1–5) and one karyotypic female (case 6) with distal 9p monosomy. Cases 1–3 and 6 had female external genitalia, case 4 showed ambiguous external genitalia, and case 5 exhibited male external genitalia with left cryptorchidism and right intrascrotal testis. Gonadal explorations at gonadectomy in cases 3 and 4 revealed that case 3 had left streak gonad and right agonadism, and case 4 had bilateral hypoplastic testes. Endocrine studies in cases 1–4 and 6 showed that cases 1, 3, and 6 had definite primary hypogonadism, with basal FSH levels of 54, 39, and 41 IU/L, respectively, whereas case 2 with severe malnutrition was unremarkable for the baseline values, and case 4 had fairly good testicular function. Fluorescence in situ hybridization and microsatellite analyses demonstrated that all cases had hemizygosity of the 9p sex-determining region distal to D9S1779, with loss of the candidate sex-determining genes DMRT1 and DMRT2 from the abnormal chromosome 9. Sequence analysis in cases 1–4 and 6 showed that they had normal sequences of each exon of DMRT1 and the DM domain of DMRT2 on the normal chromosome 9, and that cases 1–4 had normal SRY sequence. The results provide further support for the presence of a sex-determining gene(s) on distal 9p and favor the possibility of DMRT1 and/or DMRT2 being the sex-determining gene(s). Furthermore, as hemizygosity of the 9p sex-determining region was associated with a wide spectrum of gonadogenesis from agonadism to testis formation in karyotypic males and with primary hypogonadism regardless of karyotypic sex, it is inferred that haploinsufficiency of the 9p sex-determining gene(s) primarily hinders the formation of indifferent gonad, leading to various degrees of defective testis formation in karyotypic males and impaired ovary formation in karyotypic females.


2003 ◽  
Vol 57 (0) ◽  
pp. S241-S249 ◽  
Author(s):  
Jean-Nicolas Volff ◽  
David Zarkower ◽  
Vivian J. Bardwell ◽  
Manfred Schartl

2010 ◽  
Vol 30 (14) ◽  
pp. 3453-3459 ◽  
Author(s):  
Hideki Inoue ◽  
Eisuke Nishida

ABSTRACT Sex differences occur in most species and involve a variety of biological characteristics. The nematode Caenorhabditis elegans consists of two sexes, self-fertile hermaphrodites (XX) and males (XO). Males differ from hermaphrodites in morphology, behavior, and life span. Here, we find that male C. elegans worms are much more sensitive than hermaphrodites to oxidative stress and show that the DM domain transcription factor MAB-3 plays a pivotal role in determining this male hypersensitivity. The hypersensitivity to oxidative stress does not depend on the dosage of X chromosomes but is determined by the somatic sex determination pathway. Our analyses show that the male hypersensitivity is controlled by MAB-3, one of the downstream effectors of the master terminal switch TRA-1 in the sex determination pathway. Moreover, we find that MAB-3 suppresses expression of several transcriptional target genes of the ELT-2 GATA factor, which is a global regulator of transcription in the C. elegans intestine, and show that RNA interference (RNAi) against elt-2 increases sensitivity to oxidative stress. These results strongly suggest that the DM domain protein MAB-3 regulates oxidative stress sensitivity by repressing transcription of ELT-2 target genes in the intestine.


2009 ◽  
Vol 331 (2) ◽  
pp. 419 ◽  
Author(s):  
Tony Krentz ◽  
Mark Murphy ◽  
Vivian Bardwell ◽  
David Zarkower
Keyword(s):  

PLoS ONE ◽  
2012 ◽  
Vol 7 (10) ◽  
pp. e46577 ◽  
Author(s):  
Daijiro Konno ◽  
Misato Iwashita ◽  
Yoshiaki Satoh ◽  
Asuka Momiyama ◽  
Takaya Abe ◽  
...  

2009 ◽  
Vol 33 (1) ◽  
pp. 89-93
Author(s):  
Tiao-Yi XIAO ◽  
Bao-Lin WU ◽  
Xi-Kai GE ◽  
Jian-Ming SU ◽  
Kai-Jian CHEN ◽  
...  

Sign in / Sign up

Export Citation Format

Share Document