Showing papers by "David C. Page published in 1995"

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene

Abstract: We have detected deletions of portions of the Y chromosome long arm in 12 of 89 men with azoospermia (no sperm in semen). No Y deletions were detected in their male relatives or in 90 other fertile males. The 12 deletions overlap, defining a region likely to contain one or more genes required for spermatogenesis (the Azoospermia Factor, AZF). Deletion of the AZF region is associated with highly variable testicular defects, ranging from complete absence of germ cells to spermatogenic arrest with occasional production of condensed spermatids. We find no evidence of YRRM genes, recently proposed as AZF candidates, in the AZF region. The region contains a single–copy gene, DAZ (Deleted in AZoospermia), which is transcribed in the adult testis and appears to encode an RNA binding protein. The possibility that DAZ is AZF should now be explored.

An STS-Based Map of the Human Genome

Abstract: A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing of 199 kilobases. The project involved assembly of a radiation hybrid map of the human genome containing 6193 loci and incorporated a genetic linkage map of the human genome containing 5264 loci. This information was combined with the results of STS-content screening of 10,850 loci against a yeast artificial chromosome library to produce an integrated map, anchored by the radiation hybrid and genetic maps. The map provides radiation hybrid coverage of 99 percent and physical coverage of 94 percent of the human genome. The map also represents an early step in an international project to generate a transcript map of the human genome, with more than 3235 expressed sequences localized. The STSs in the map provide a scaffold for initiating large-scale sequencing of the human genome.

Gonadoblastoma: molecular definition of the susceptibility region on the Y chromosome.

Abstract: Using sequence-tagged sites we have performed deletion mapping of the Y chromosome in sex-reversed female patients with a Y chromosome and gonadoblastoma. The GBY gene (gonadoblastoma locus on the Y chromosome) was sublocalized to a small region near the centromere of the Y chromosome. We estimate the size of the GBY critical region to be approximately 1-2 Mb. Our analysis also indicates that copies of two dispersed Y-linked gene families, TSPY (testis-specific protein, Y-encoded) and YRRM (Y-chromosome RNA recognition motif) are present in all patients and that copies of TSPY but not YRRM fall within the GBY critical region as formally defined by deletion mapping. Two tumor samples showed expression of both genes and in one patient this expression was limited to a unilateral gonadoblastoma but absent in the contralateral streak gonad. Although our results do not directly implicate TSPY or YRRM in the etiology of the tumor, they raise the issue of whether there is one GBY gene in the critical region or possibly multiple GBY loci dispersed on the Y chromosome.

Molecular mapping of the putative gonadoblastoma locus on the Y chromosome

Abstract: Based on the high incidence of gonadoblastoma in females with XY gonadal dysgenesis or 45,X/46,XY mosaicism, the existence of a susceptibility locus on the Y chromosome (GBY) has been postulated. We attempted to map GBY by making use of a recently developed dense map of Y-chromosomal sequence-tagged sites (STSs). In two female patients with gonadoblastoma, small marker chromosomes contained portions of the Y chromosome, and a single region of overlap could be defined extending from probe pDP97 in interval 4B, which contains the centromere, to marker sY182 in interval 5E of the proximal long arm. This interval is contained in a YAC contig that comprises approximately 4 Mb of DNA. Our findings confirm the previous localization of GBY and greatly refine it. The localization of GBY overlaps with the region to which a putative growth determinant, GCY, was recently assigned.

Deletion mapping of stature determinants on the long arm of the Y chromosome

Abstract: A gene contributing to human growth has previously been tentatively mapped to the long arm of the Y chromosome. In the present study, recently developed sequence-tagged site markers covering the entire Y chromosome were used to define deletion breakpoints in 15 males with partial deletions of Yq. By correlating the height of these individuals with their deletion breakpoints, we located a region whose presence or absence has a marked effect on stature. This critical region comprises the most proximal portion of the long arm, extending from marker sY78 in interval 4B to marker sY94 in interval 5G of the proximal long arm.

Spirituality of EMTs: a study of the spiritual nature of EMS workers and its effects on perceived happiness and prayers for patients.

Abstract: Introduction: There is reason to believe that traumatic events experienced on the job make emergency medical services (EMS) workers more skeptical about their spiritual beliefs. Little is known about the spiritual lives and experiences of emergency medical technicians (EMTs). No studies have measured the responses of EMTs to the spiritual needs of their patients. Purpose: This study investigates whether EMS workers are less spiritual than the average U.S. citizen, and what effect this has on prayer for patients and perceived happiness. Methods: Data were collected in a major metropolitan EMS system from 125 EMTs and paramedics through a questionnaire about their beliefs and behaviors regarding their spirituality. Pearson product-moment correlation coefficients (r) were used to analyze variables. The religious attitudes of EMTs were compared with those of the general population as defined in the Gallup studies. Results: Ninety-one percent of the EMS workers interviewed and 94% of Gallup's sample of the general population said they believe in God. The findings on other measures in the EMT sample also were very similar to those defined in the general population. Of the EMTs, 60% said they never have doubted the existence of God. Eighty-four percent believe God still works miracles, and 80% of the EMTs believe in life after death. Eighty-seven percent of EMS workers pray; 62 % pray for their patients, and 54% pray for their coworkers. Frequency of church or synagogue attendance is positively and significantly correlated with the degree of perceived life happiness (r = 0.226, p 0.005). Frequency of prayer also is correlated positively to perceived life happiness (r = 0.182,p 0.005). Conclusion: Emergency medical services workers are interested and willing to talk about their spiritual lives. They do have more doubts about the existence of God than does the average civilian, but are just as spiritual. Those EMTs with more active spiritual lives perceive themselves as happier. The majority of EMS workers pray for their patients.