Human regulatory variation, reported as expression quantitative trait loci (eQTLs), contributes to differences between populations and tissues. The contribution of eQTLs to differences between sexes, however, has not been investigated to date. Here we explore regulatory variation in females and males and demonstrate that 12%-15% of autosomal eQTLs function in a sex-biased manner. We show that g...

Female mice heterozygous for testicular feminization were sex-reversed by means of the autosomal sex reversal mutation {Sxr). Due to X-inactivation, the blastemata for male sex organs in these animals are composed of a mixture of cells, carrying either the wildtype X chromosome or the X chromosome affected with Tfm in an active state. Thus, the two types of cells are sensitive to androgens or i...

The sex-ratio trait described in several Drosophila species is a type of naturally occurring X-linked meiotic drive that causes males bearing a sex-ratio X chromosome to produce progenies with a large excess of females. We have previously reported the occurrence of sex-ratio X chromosomes in Drosophila simulans. In this species, because of the co-occurrence of drive suppressors, the natural pop...

URING a study of color inheritance in the domestic pigeon three D autosomal factors have been found to be linked. In a preliminary report (HOLLANDER 1936) certain statements were made which must be modified in the light of additional data. Previous authors have failed to demonstrate any autosomal linkages in the pigeon. CHRISTIE and WRIEDT (1923) attempted to show a linkage between white-tail a...

in the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

Reproductive isolation is crucial for the process of speciation to progress. Sex chromosomes have been assigned a key role in driving reproductive isolation but empirical evidence from natural population processes has been restricted to organisms with degenerated sex chromosomes such as mammals and birds. Here we report restricted introgression at sex-linked compared to autosomal markers in a h...

Congenital cutis laxa is an exceptional condition. No large scale pedigree has been reported from Iran. We report a family with 106 members with two members affected with cutis laxa. Our cases were two patients (male and female) with pre- and postnatal growth retardation, cutis laxa, characteristic facies and other manifestations which proved that they were affected with cutis laxa. Their ...

Non-invasive prenatal test (NIPT) has become a popular screening worldwide for common trisomies. In addition, the can also sex chromosomal aneuploidies (SCAs) with similar sensitivity. recent years, scope of NIPT extended to screen pregnancies clinically significant microdeletions (MDs), rare autosomal aneuploidies, and subchromosomal abnormalities. The clinical utility beyond trisomies 21,18,1...