Human genes encoding prothrombin and ceruloplasmin map to 11p11–q12 and 3q21–24, respectively

  title={Human genes encoding prothrombin and ceruloplasmin map to 11p11–q12 and 3q21–24, respectively},
  author={Nicola J Royle and David M. Irwin and Marlys L. Koschinsky and R. T. MacGillivray and John L. Hamerton},
  journal={Somatic Cell and Molecular Genetics},
The gene for human prothrombin, or factor II (F2) has been assigned to 11p11–q12 by the combined use of a panel of somatic cell hybrid DNAs and in situ hybridization, using both cDNA and genomic probes. In addition, the cDNA probe for F2 recognizes a homologous sequence which has been tentatively mapped to the X chromosome. Similar approaches have been used to confirm the assignment of the ceruloplasmin gene, but to regionally localize it more proximally than previously reported (3q21–q24… 

Structural gene encoding human factor XII is located at 5q33-qter

The gene encoding human factor XII (F12 ) or Hageman factor has been mapped to 5q33-qter. This has been achieved by analyzing the results obtained from hybridizing a cloned fragment from the factor

Highly polymorphic region of the human prothrombin (F2) gene

The sequence differed from that previously reported at as many as 6 positions in a 225-bp stretch spanning exon 6 and its flanking regions; four of these positions were related to endonuclease restriction sites for AluI, HpaII(MspI), MboII, and NcoI.

Characterization of the cDNA coding for mouse prothrombin and localization of the gene on mouse chromosome 2.

A series of overlapping cDNAs coding for mouse prothrombin (coagulation factor II) have been isolated and the composite DNA sequence has been determined and Amino acid residues important for the structure and function of human prothROMbin are conserved in the mouse and bovine proteins.

The pig aminoacylase 1 (ACY1) and ribosomal protein L29 (RPL29)/heparin/heparan sulfate interacting protein (HIP) genes are located together at 13q21→q22, corresponding to human 3p21.1

BLAST search results reveal that chromosome 13 contains a transcript similar to human ribosomal protein L29 (RPL29)/heparan sulfate/heparin-interacting protein (HIP) and suggests also that the human RPL29/HIP gene may be near ACY1.

Detection of a new polymorphism of the human prothrombin (F2) gene by combination of PASA and mutated primer-mediated PCR-RFLP

A new polymorphism of the human prothrombin (F2) gene was detected by a combination of polymerase chain reaction (PCR) amplification of specific alleles (PASA) and mutated primer-mediated PCR

Structure of the gene for human coagulation factor V.

The isolation and characterization of genomic DNA coding for human factor V is described, which indicates that the protein contains several types of internal repeats with the following domain structure: A1-A2-B-A3-C1-C2.

Isolation and characterization of a processed gene for human ceruloplasmin.

The pseudogene that is identified seems to comprise the only sequence in the human genome that is closely related to the wild-type gene, and is mapped to human chromosome 8.

Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia.

This is the first report indicating the critical role of Arg517 in the normal physiological interaction of thrombin with fibrinogen, designated Prothrombin Greenville.

A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene.

Data strongly support a single origin for factor II G20210A that probably occurred after the divergence of Africans from non-Africans and of Caucasoid from Mongoloid subpopulations.



Characterization, mapping, and expression of the human ceruloplasmin gene.

  • F. YangS. Naylor D. Barnett
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1986
The CP gene was mapped to human chromosome 3 by somatic-cell-hybrid analysis and to 3q25 by in situ hybridization; however, sites of hybridization to DNA on other chromosomal sites suggested additional CP-like DNA sequences in the human genome.

Regional localization of the human transferrin receptor gene to 3q26.2----qter.

The chromosomal locus of the receptor gene was determined by in situ hybridization to 3q26.2----qter, a region of chromosome 3 that appears to be involved in metal transport and that is subject to nonrandom structural rearrangements associated with neoplasia.

Human transferrin: cDNA characterization and chromosomal localization.

  • F. YangJ. Lum B. Bowman
  • Biology
    Proceedings of the National Academy of Sciences of the United States of America
  • 1984
Ch Chromosomal mapping by in situ hybridization and somatic cell hybrid analysis indicate that the Tf gene is located at q21-25 on human chromosome 3, consistent with linkage of the T f, Tf receptor, and melanoma p97 loci.

Regional localization on the human X chromosome and polymorphism of the coagulation factor IX gene (hemophilia B locus).

A cDNA clone corresponding to factor IX has been used to detect homologous sequences in the human genome and should be useful for the detection of carriers of the hemophilia B trait and for prenatal diagnosis in informative families and, more generally, for the establishment of a linkage map of the human X chromosome.

Characterization of the complementary deoxyribonucleic acid and gene coding for human prothrombin.

The DNA sequences of a complementary deoxyribonucleic acid (cDNA) and a portion of the gene coding for human prothrombin have been determined and it is proposed that the leader sequence consists of a signal sequence and a pro sequence for the mature protein that circulates in plasma.

Assignment of the haemophilia B (Factor IX) locus to the q26‐qter region of the X chromosome

Cloned DNA sequences of the factor IX (Haemophilia B) locus were hybridized to restriction enzyme digests of DNA prepared from a series of somatic cell hybrids containing different X‐chromosomal regions and also in situ to prepared metaphase chromosomes.

Molecular cloning of a cDNA encoding human antihaemophilic factor

A complete copy of the mRNA sequences encoding human coagulation factor VIII:C has been cloned and expressed and has an obvious domain structure, contains sequence repeats and is structurally related to factor V and ceruloplasmin.

High-resolution chromosomal localization of the beta-gene of the human beta-globin gene complex by in situ hybridization.

High-resolution chromosome analysis suggests a more precise location of the beta-gene to region 11p15.4---- p15.5 of the human beta-globin gene cluster, as suggested by in situ hybridization.

Complete cDNA sequence of human preceruloplasmin.

Comparison of the complete nucleotide sequences of human ceruloplasmin cDNA and human clotting factor VIII cDNA showed regions of sequence homology, suggesting that these two proteins have evolved from a common ancestor.