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S Rozen

Publications and source records attributed to S Rozen.

27 records · Page 2Linked to original sources
PubMed1996

The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned.

It is widely believed that most or all Y-chromosomal genes were once shared with the X chromosome. The DAZ gene is a candidate for the human Y-chromosomal Azoospermia Factor (AZF). We report multiple copies of DAZ (> 99% identical in DNA sequence) clustered in the AZF region and a functional DAZ homologue (DAZH) on human chromosome 3. The entire gene family appears to be expressed in germ cells. Sequence analysis indicates that the Y-chromosomal DAZ cluster arose during primate evolution by (i) transposing the autosomal gene to the Y, (ii) amplifying and pruning exons within the transposed gene and (iii) amplifying the modified gene. These results challenge prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes is an important process in Y chromosome evolution.

Amino Acid Sequence↗
PubMed1995

An STS-based map of the human genome.

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.

Animals↗
PubMed1995

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

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.

Amino Acid Sequence↗
PubMed1989

Eosinophilic pleural effusion in cutaneous myiasis.

We have reported the case of a 54-year-old man with recurrent painful migratory subcutaneous nodules associated with marked blood eosinophilia and an eosinophilic pleural effusion. The entire syndrome was subsequently determined to be due to cutaneous myiasis caused by the larvae of Hypoderma lineatum, the cattle botfly. Infestation by this or other dipterous fly larvae should be among the parasitic diseases considered in the differential diagnosis of any patient with similar symptoms.

Diagnosis, Differential↗
PubMed1987

Familial colon cancer in the Tel-Aviv area and the influence of ethnic origin.

The family history of colon cancer was investigated in 38,823 individuals (2,129 families) who comprised a control and an oncology patient series from Tel-Aviv and nearby areas. A significant increased risk for colon cancer was observed among first-degree relatives of colon cancer patients when compared to controls. When the patient sample was divided into two groups based on country and continent of birth--European (Ashkenazim) and other (nonAshkenazim)--the relatives of the nonAshkenazi subjects showed a greater relative risk for colon cancer (P less than 0.05). Colon cancer was found to be less frequent in nonAshkenazim than in Ashkenazim controls. These findings suggest that although the colon cancer frequency in the nonAshkenazi group is lower, the genetic component may be more important than for the Ashkenazi sample. The nonAshkenazi Jews may represent distinct subgroups that differ with respect to either primary genetic susceptibility to colorectal cancer and/or they may have been subjected to peculiar, environmental carcinogenic exposures when compared to their Ashkenazim brethren.

Adult↗
PubMed1976

Malignant myelosclerosis.

Malignant myelosclerosis, as described by Lewis and Szur, is characterized by an acute, rapidly fatal illness, with anemia, leukopenia, thrombocytopenia, myeloblasts in the blood, and a "dry tap" on bone marrow aspiration. This entity has been only rarely reported in the American literature. We report three additional cases of myelosclerosis. The patients were 70, 37, and 46 years old with a survival of eight weeks, six weeks, and 11 months, respectively. Bone marrow biopsy specimen showed fibrosis in tow with increased reticulum fibers and blast cells in all. At autopsy, the spleen and liver wereinfiltrated with leukemic cells. In two cases, the lymph nodes were involved. Extramedullary erythropoiesis was also seen. We believe that malignant myelosclerosis is best interpreted as an acute myeloproliferative disorder sharing features with acute leukemia and agnogenic myeloid metaplasia.

Adult↗