Study of Alu sequences at the hypoxanthine phosphoribosyltransferase ( hprt) encoding region of man

• Published in: Gene Vol. 184; no. 2; pp. 155 - 162
• Main Authors: Renwick, P.J, Birley, A.J, Hultén, M.A
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15.01.1997
• Subjects: Base Sequence; Direct repeats; DNA; Humans; Hypoxanthine Phosphoribosyltransferase - genetics; Insertion events; Intragenic; Molecular Sequence Data; Novel sequences; Recombination, Genetic; Repetitive Sequences, Nucleic Acid; SINES; Subfamily classification; Insertion events; Subfamily classification; Direct repeats; Intragenic; SINES; Novel sequences; kb, kilobase; SINES, short interspersed repeated DNA sequences; bp, base pair; hprt, hypoxanthine phosphoribosyltransferase; DNA, deoxyribonucleic acid
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/S0378-1119(96)00588-4

The hypoxanthine phosphoribosyltransferase ( hprt) encoding region of man is considered rich in Alu sequences; with 49 sequences present within 57 kilobases. Subfamily classification of the Alu sequences and identification of flanking direct repeats has been carried out to detect past rearrangements associated with their insertion into the region. Members of the Alu-J and three Alu-S subfamilies are present, along with the existence of free left arm sequences. Using available data, a comparison is made of the Alu subfamilies present at different gene regions. The heterogeneity in the number of each subfamily present at different genes shows that no one particular subfamily attained saturation in the genome. Several adjacent insertions of Alu sequences are seen at the hprt region. Furthermore two novel sequences are described, there is an incident where one Alu sequence has inserted into the middle poly(A) tract of an existing sequence at the hprt region; while another resulted from an Alu/ Alu cross-over event elsewhere in the genome, before insertion into the hprt region. Once inserted, the Alu sequences are rarely subject to loss or rearrangement.