The gene structure of human anti-haemophilic factor IX.

Abstract

The mRNA sequence of the human intrinsic clotting factor IX (Christmas factor) has been completed and is 2802 residues long, including a 29 residue long 5′ non‐coding and a 1390 residue long 3′ non‐coding region, but excluding the poly(A) tail. The factor IX gene is approximately 34 kb long and we define, by the sequencing of 5280 residues, the presumed promoter region, all eight exons, and some intron and flanking sequence. Introns account for 92% of the gene length and the longest is estimated to be 10 100 residues. Exons conform roughly to previously designated protein regions, but the catalytic region of the protein is coded by two separate exons. This differs from the arrangement in the other characterized serine protease genes which are further subdivided in this region.

Localization of transcription initiation sites in the human coagulation factor IX gene

“…The locations of the transcriptional start site clusters are comparable to those found previously [4]. However, there is a difference in the interpretation of the results.…”

“…It contains 8 exons and 7 introns which cover a region of -34 kb [4]. The gene is expressed primarily in the liver [5].…”

“…The gene is expressed primarily in the liver [5]. Using primer extension and Sl nuclease mapping Anson et al [4] detected 3 start sites of mRNA synthesis (Fig. 1).…”

A Novel Missense Mutation of F 9 Gene in Hemophilia B Patients

“…F9 gene is located on the long arm of chromosome X at band Xq27.1-q27.2. 461-residue pre-pro-protein is translated from 2802bp mRNA and subsequently cleaved to the 415-residue mature protein when undergoes a serial of posttranslational modifications [2,3]. FIX protein compose of c-carboxyglutamic acid-rich (Gla) domain, 2 epidermal growth factor-like domains (EGF1 and EGF2) and serine protease (SP) domain.…”

RFLPs of factor IX gene in Japanese haemophilia B families and gene deletion in two high-responder-inhibitor patients

“…The gene for coagulation factor IX has been identified and completely sequenced by Choo et al (1982), Anson et al (1984), Kurachi and Davie (1982), Yoshitake et al (1985) and Jaye el a/. (1983).…”