Somatic cell hybrid and genetic localization of the gene encoding fatty acid ethyl ester synthase-III to 11q13 between D11S480 and FGF3

Journal Article · Thu Sep 01 04:00:00 EDT 1994 · American Journal of Human Genetics

OSTI ID:134724

Smith, C M ^[1]; Bora, P S; Bora, N S ^[2]

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1. Washington Univ., St. Louis, MO (United States)
2. St. Louis Univ., MO (United States); and others

Fatty acid ethyl ester synthase-III (FAEES-III) metabolizes ethanol nonoxidatively in extra hepatic organs such as the heart, brain and pancreas. These esters are implicated in mediating some of the alcohol-induced injury that is seen in these organs. The gene encoding this enzyme has recently been cloned and sequenced. Somatic cell hybrid analysis localizes the gene to chromosome 11. FAEES-III was sublocalized to chromosome 11q13 through the use of radiation-reduced somatic cell hybrid mapping. Sequence analysis of the 5{prime} UTR revealed 23 (TAAAA)n repeats in the original clone interrupted by a single (TA) and (TAA) insertion. When PCR was done on random human DNA with primers that flank the repeat, the resulting alleles were found to be polymorphic. Analysis of DNA from 100 unrelated Caucasian individuals identified a total of 11 alleles. The spacing between the alleles falls into 2 classes: (1) 5 bp, the predicted pattern, (2) 2 or 3 bp above the `predicted` pentameric repeat suggesting that the addition or deletion of the (TA) or (TAA) interruptions has occurred. The PIC of this locus is 0.74. The Venezuelan reference pedigree (288 individuals) was genotyped with the FAEES-III marker as well as three chromosome 11 index loci, D11S480, FGF3, and D11S527. Multipoint analysis using the CRIMAP option BUILD resulted in the order CEN-D11S480-FAEES-III-INT2-D11S527 with greater than 1000:1 odds over any other order. The identification of this highly polymorphic locus in the 5{prime} control region of a transcribed gene is useful for the genetic and physical mapping efforts in this very gene-rich region.

• OSTI ID: 134724
• Report Number(s): CONF-941009--
• Journal Information: American Journal of Human Genetics, Journal Name: American Journal of Human Genetics Journal Issue: Suppl.3 Vol. 55; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
99 GENERAL AND MISCELLANEOUS
BIOLOGICAL MARKERS
C CODES
CARBOXYLIC ACIDS
DNA SEQUENCING
DNA-CLONING
GENE MUTATIONS
GENES
GENETIC MAPPING
GENOTYPE
HUMAN CHROMOSOMES
HYBRIDIZATION
METABOLIC DISEASES
NUCLEOTIDES
PATIENTS
POLYMERASE CHAIN REACTION
SOMATIC CELLS
TRANSCRIPTION
VENEZUELA