De novo truncation of chromosome 16p and healing with (TTAGGG)[sub n] in the [alpha]-thalassemia/mental retardation syndrome (ATR-16)

Journal Article · Thu Apr 01 04:00:00 EST 1993 · American Journal of Human Genetics; (United States)

OSTI ID:6083193

Lamb, J; Harris, P C; Wood, W G; Higgs, D R ^[1]; Wilkie, A O.M. ^[2]; Dauwerse, J G ^[3]

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1. John Radcliffe Hospital, Oxford (United Kingdom)
2. University Hospital of Wales, Cardiff (United Kingdom)
3. State Univ. of Leiden (Netherlands)

The authors have previously described a series of patients in whom the deletion of 1--2 megabases (Mb) of DNA from the tip of the short arm of chromosome 16 (band 16p13.3) is associated with [alpha]-thalassemia/mental retardation syndrome (ATR-16). They now show that one of these patients has a de novo truncation of the terminal 2 Mb of chromosome 16p and that telomeric sequence (TTAGGG)[sub n] has been added at the site of breakage. This suggests that the chromosomal break, which is paternal in origin and which probably arose at meiosis, has been stabilized in vivo by the direct addition of the telomeric sequence. Sequence comparisons of this breakpoint with that of a previously described chromosomal truncation ([alpha][alpha][sup TI]) do not reveal extensive sequence homology. However, both breakpoints show minimal complementarity (3--4 bp) to the proposed RNA template of human telomerase at the site at which telomere repeats have been added. Unlike previously characterized individuals with ATR-16, the clinical features of this patient appear to be solely due to monosomy for the terminal portion of 16p13.3. The identification of further patients with [open quotes]pure[close quotes] monosomy for the tip of chromosome 16p will be important for defining the loci contributing to the phenotype of this syndrome. 33 refs., 4 figs., 1 tab.

• OSTI ID: 6083193
• Journal Information: American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 52:4; ISSN AJHGAG; ISSN 0002-9297
• Country of Publication: United States
• Language: English

Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANEMIAS
CHROMOSOMAL ABERRATIONS
CHROMOSOMES
DISEASES
DNA
DNA SEQUENCING
HEMIC DISEASES
HUMAN CHROMOSOME 16
HUMAN CHROMOSOMES
LOSSES
MENTAL DISORDERS
MUTATIONS
NUCLEIC ACIDS
ORGANIC COMPOUNDS
STRAND BREAKS
STRUCTURAL CHEMICAL ANALYSIS
SYMPTOMS
THALASSEMIA