The little (lit) mutation cosegregates with the growth hormone releasing factor receptor on mouse chromosome 6

Mamm Genome. 1993;4(10):555-9. doi: 10.1007/BF00361384.

Abstract

The little (lit) autosomal recessive mutation in the mouse causes dwarfism due to isolated growth hormone deficiency. The in vitro physiology of pituitary growth hormone release in lit/lit animals suggests that an abnormality in the growth hormone releasing factor (GRF) receptor (Ghrfr) is a very likely candidate for the lit mutation. We mapped Ghrfr to the region around lit on Chromosome (Chr) 6 in 100 chromosomes of an FVB x Czech II interspecific backcross. Molecular markers were Neuropeptide Y (Npy), homeobox (Hoxa2), immunoglobulin kappa chain (Igk), wingless-related MMTV integration site (Wnt-2), cystic fibrosis (Cftr), carboxypeptidase A (Cpa), and Ghrfr. Map order and distances were as follows: Cen-II-Wnt-2-(0 cM)-Cftr-(6.0 cM)-Cpa-(8.0 cM)-Npy-(1.0 cM)-Hoxa2-(3.0 cM)-Ghrfr-(2.0 cM)-Igk. We mapped lit (by phenotype) relative to Hoxa2 and Igk on 72 F2 chromosomes of offspring of a B6CZ lit/ + x B6FVB lit/ + intercross and 18 chromosomes of offspring of a B6FVB lit/ + intercross. Map order and distances were as follows: Hoxa2-(2.1 cM)-lit/Ghrfr-(3.7 cM)-Igk. No recombinations between lit and Ghrfr were detected. Thus, Ghrfr maps to mouse Chr 6 and may be allelic with lit. Amplification of a short segment at the 3' end of the Ghrfr mRNA by reverse transcription coupled to the polymerase chain reaction showed a greatly diminished level of GRF receptor mRNA in the pituitaries of lit/lit mice as compared with lit/ + controls. Low level of message could reflect a primary molecular defect or be due to secondary hypoplasia of somatotropes.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Base Sequence
  • Chromosome Mapping
  • Crosses, Genetic
  • DNA
  • Dwarfism, Pituitary / genetics*
  • Female
  • Growth Hormone / deficiency
  • Humans
  • Male
  • Mice
  • Molecular Sequence Data
  • Mutation*
  • Phenotype
  • Polymerase Chain Reaction
  • Receptors, Neuropeptide / genetics*
  • Receptors, Neuropeptide / metabolism
  • Receptors, Pituitary Hormone-Regulating Hormone / genetics*
  • Receptors, Pituitary Hormone-Regulating Hormone / metabolism

Substances

  • Receptors, Neuropeptide
  • Receptors, Pituitary Hormone-Regulating Hormone
  • somatocrinin receptor
  • Growth Hormone
  • DNA