Polymorphic insertions/deletions of both 1550 nt and 100 nt in two microsatellite-containing, LINE-related intronic regions of the rabbit κ-casein gene

• Published in: Gene Vol. 213; no. 1; pp. 23 - 30
• Main Authors: Hiripi, L, Devinoy, E, Rat, P, Baranyi, M, Fontaine, M.L, Bösze, Z
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 15.06.1998
• Subjects: Allele; Lactation; Mammary gland; Milk; Polymorphism; aa, amino acid(s); tsp, transcription start point; Lactation; UV, ultraviolet; kb, kilobase(s) or 1000 bp; C, cytidine; bp, base pair(s); SDS, sodium dodecyl sulfate; A, adenosine; UTR, untranslated region; SSC, 0.15 M NaCl/0.015 M Na 3.citrate pH 7.6; G, guanosine; Allele; nt, nucleotide(s); T, thymidine; Mammary gland; Milk; Polymorphism
• ISSN: 0378-1119; 1879-0038
• DOI: 10.1016/S0378-1119(98)00218-2

The most frequent allele of the rabbit κ-casein (κ-Cas)-encoding gene (A allele) has previously been shown to possess two sequences similar to those found in the 5′ end of long interspersed repeated elements ( LINE). Part of an inverted rabbit LINE is present in the first intron and part of a direct rabbit LINE in the fourth intron. We describe herewith a less frequent allele (B allele) that lacks both 100 bp in the first intron and 1550 bp in the fourth intron. It was not possible to identify any allele exhibiting only one of the deletions in a population of 55 rabbits. The 100 bp present in the first intron of the A allele, but absent from the B allele, are located at the 5′ end of the inverse complementary LINE and include the poly (T) track of the LINE. The 1550 bp present in the fourth intron of the A allele, but absent from the B allele, include the entire direct LINE sequence. Therefore, the B allele only possesses one partial LINE sequence that is located in the first intron and is truncated when compared to the copy found in the first intron of the A allele. The B allele might thus be more recent than the A allele. Differences between the sequences of transcripts corresponding to each allele are limited to two silent mutations and three modifications in the 3′ UTR. In the mammary glands of lactating rabbits, which are homozygous for both alleles, κ-Cas mRNA accumulate to similar levels and are translated into identical κ-Cas that are secreted at similar concentrations into milk.