Observations on the Inheritance of Sickle-Cell Hemoglobin and Hemoglobin C1

Ranney, Helen M.

doi:10.1172/jci103044

Cited by 48 publications

(4 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…were discovered which showed similar inheritance, and Itano (I953) suggested that because individuals with both Hb-C and Hb-S carried no Hb-A, the genes responsible for these two haemoglobins were alleles. This was shortly afterwards confirmed by the family studies of Ranney (1954). A similar allelism was proposed for Hb-D, Hb-E, and Hb-G (Neel,I956).…”

Section: The Abnormal Haemoglobinssupporting

confidence: 60%

Human Haemoglobins

Huehns¹,

Shooter²

1965

Journal of Medical Genetics

173

View full text Add to dashboard Cite

Section: The Abnormal Haemoglobinssupporting

confidence: 60%

Human Haemoglobins

Huehns¹,

Shooter²

1965

Journal of Medical Genetics

173

View full text Add to dashboard Cite

“…The resulting chromatogram is termed a "fin gerprint" of the protein, and the position of peptides from digests of various hemoglobins may be readily compared. Fortunately, both forms occur with high frequency in some populations and considerable evidence supports the conclusion that the genes controlling hemoglobins S and C are indeed allelic (149,150) . For four of these, the abnormal peptide has been shown to differ from the normal in a single amino acid (132,133,136,139,145,146,147); in the remaining cases analysis has not proceeded It would be expected, on the basis of these findings, that hemoglobins C and S should act as alleles in inheritance.…”

Section: Human Hemoglobinsmentioning

confidence: 84%

Gene Action

Yanofsky¹,

Lawrence²

1960

Annu. Rev. Microbiol.

View full text Add to dashboard Cite

Evidence supporting the one gene-one protein hypothesis has increased rapidly in the past ten years. The development of techniques for the analysis of the amino acid sequences of proteins and protein fragments (1, 2) and mutational site sequences in genes (3, 4, 5) has opened the door to a direct experimental examination of the details of this relationship. In addition, the presentation of the Watson-Crick model of DNA (6) and the theoretical explorations of nucleotide coding (7 to 11) have provided a comforting theoretical background to questions of how the genetic material specifies the information essential for the assembling of the characteristic amino acid sequence of each protein. The experimental analysis of the precise mecha nism of cytoplasmic protein synthesis has led to an understanding of several major aspects of this process (see review by Novelli in this volume) .The previous history of the relationship of gene-to-protein has been re viewed in detail in recent papers (12, 13), and a list of some 50-odd examples of the effects of mutations on enzymes in 11 different organisms has been published within the last year (13). Therefore, the present paper will be con fined to a discussion of studies with well-analyzed gene-protein systems, and systems which show considerable promise for future investigation. Such studies are providing the gross information which will ultimately seek ex planation at the nucleotide and amino acid level. The discussion will be re stricted for the most part to microbial material. However, the mammalian hemoglobin system will also be discussed since it is proving to be a model for expectations and predictions of the effects of mutations on specific proteins. No attempt has been made to cover every paper on each subject but only those pertinent to the points discussed. In areas related to the main topics considered, general review articles are given as references.The word "gene" assumes different meanings according to the operations used in characterizing it (3). In this review the terms "gene" or "locus" will refer to a segment of the genetic material carrying the information for the 1 The survey of the literature pertaining to this review was concluded in February, 1960. 2 The following abbreviations will be used: CRM (cross-reacting material); DNA (deoxyribonubleic acid); RNA (ribonucleic acid); TPN (triphosphopyridine nucleo tide).

show abstract

“…The appearance of the abnormal hemoglobins, which are considered by many workers (15)(16)(17) to represent allelic forms of hemoglobin A, does not seem to affect the concentration of the A2 component; normal levels were found both in the heterozygous and homozygous types of sickle-cell disease. This suggests that A2 hemoglobin synthesis is not affected by different mutants of the hemoglobin locus.…”

Section: Properties Of the Isolated A2 Hemoglobinmentioning

confidence: 96%