The mammalian Y chromosome is essential for spermatogenesis, which is characterized by sperm cell differentiation and chromatin condensation for acquisition of correct shape of the sperm. Deletions of the male-specific region of the mouse Y chromosome long arm (MSYq), harboring multiple copies of a few genes, lead to sperm head defects and impaired fertility. Using chromatin immunoprecipitation...

The sperm chromatin structure assay (SCSA) is a flow cytometric (FCM) technique which exploits the metachromatic properties of Acridine Orange to monitor the susceptibility of sperm chromatin DNA to in-situ acid denaturation. SCSA was used to study the chromatin structure variations of human spermatozoa in semen, both before and after swim-up and after cryopreservation. Semen samples were provi...

BACKGROUND Massively parallel, high-throughput sequencing technology is helping to generate new insights into the genetic basis of human diseases. We used whole exome sequencing to identify the mutation underlying a syndrome affecting 2 siblings with aortic hypoplasia, calcific atherosclerosis, systolic hypertension, and premature cataract. METHODS AND RESULTS Exonic regions were captured and...

Introduction Chromatin modifications and epigenetics are important pathogenesis mechanisms leading to various neurologic psychiatric disorders including epilepsy, drug addictions, depression, autistic spectrum, learning disabilities schizophrenia. Recently, the disruption of chromatin remodeling BAF complex has been linked several neurodevelopmental syndromes, commonly referred as PBAFopathies....

BACKGROUND Previous studies showed that immature oocytes stored in ovarian tissue could develop to the mature stage after transplantation. However, the quality and competency of the oocytes developed in xenografted ovarian tissue have never been investigated. As a pilot study to investigate this uncharted issue, we evaluated microtubule organization and chromatin configuration of human oocytes ...

OBJECTIVE To evaluate the effect of vaginal lubricants Pre-Seed, FemGlide, Astroglide, and Replens on human sperm motility and chromatin integrity. DESIGN Prospective, comparative, in vitro study. SETTING Andrology laboratory at tertiary care hospital. PATIENT(S) Thirteen normozoospermic donors. INTERVENTION(S) Semen samples from 13 subjects were incubated in human tubal fluid media (HT...

Background: The maintenance, regulation, and dynamics of heterochromatin in the human malaria parasite, Plasmodium falciparum, has drawn increasing attention due to its regulatory role mutually exclusive virulence gene expression silencing key developmental regulators. The advent genome-wide analyses such as chromatin-immunoprecipitation foll...