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Biomedical subjects

D Bhavsar

Publications and source records attributed to D Bhavsar.

7 recordsLinked to original sources
PubMed1997

Conserved mutations in human ferritin H pseudogenes: a second functional sequence or an evolutionary quirk?

This paper describes a search for a second functional human ferritin H gene in a collection of genomic clones. Nine new H-like sequences have been mapped to chromosomes 1p22-31, 1q32-42, 2q32-33, 3q21-23, 13q12, 14, 17p11-pter and X. These were examined for evidence of possible functionality by sequencing and by searching for possible introns. All except an uncharacterized sequence on chromosome 13 appear to be processed pseudogenes. However, nearly all share several conserved differences with the known functional sequence. These differences occur at regions of unusual structure. It is not known whether these sequences are derived from a second functional gene or from site-specific mutations in the generation of pseudogenes from the known functional gene. We also show that several hominoids contain H gene families with similar complexities to humans and that most of the human genes have counterparts in chimpanzees and gorillas.

Animals↗
PubMed1995

An unusual human ferritin H sequence from chromosome 4.

This note describes a ferritin H pseudogene and its mapping to chromosome 4 with a hybrid cell panel. This FTH sequence contains an unusual insertion which suggests it could be a retrotranscript of a new functional FTH gene.

Animals↗
PubMed1994

Chimerism in PCR products from a multigene family.

This paper describes a potential hazard in obtaining sequences of a multigene family by amplifying the mixed population by the polymerase chain reaction with primers from conserved sequences. We describe a product which appears to be a chimera formed during the PCR reaction from two different but related sequences.

Base Sequence↗
PubMed1994

Exclusion of ferritins and iron-responsive element (IRE)-binding proteins as candidates for the hemochromatosis gene.

We have looked for genes for ferritin and its translational control protein that could account for anomalies in the expression of ferritin (FT) and the transferrin receptor in the duodenum of individuals with hemochromatosis (HC). We show that there are probably only two FTH-like sequences near the HC locus on the short arm of chromosome 6 and no FTL-like sequences. We report the cloning of the previously uncharacterized FTH sequence from 6p (FTHL15) and show that it is probably a processed pseudogene. This gene has been mapped with a panel of radiation hybrid cells to near 6p12. Additionally, we show that there are no sequences on chromosome 6p for a protein that coordinately regulates expression of ferritin and the transferrin receptor.

Animals↗