Europe PMC

This website requires cookies, and the limited processing of your personal data in order to function. By using the site you are agreeing to this as outlined in our privacy notice and cookie policy.

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

Author information

Affiliations

  • 1. Molecular Medicine Unit, St.James's University Hospital, Leeds LS9 7TF, United Kingdom.
      Authors
    • Jackson AP 1
    (1 author)

ORCIDs linked to this article

American Journal of Human Genetics, 01 Aug 1998, 63(2):541-546
https://doi.org/10.1086/301966 PMID: 9683597 PMCID: PMC1377307

Free full text in Europe PMC

Abstract 

Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly.

Free full text 

Logo of ajhgGuide for AuthorsAbout this journalExplore this journalAmerican Journal of Human Genetics
Am J Hum Genet. 1998 Aug; 63(2): 541–546.
PMCID: PMC1377307
PMID: 9683597

Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter.

A P Jackson, D P McHale, D A Campbell, H Jafri, Y Rashid, J Mannan, G Karbani, P Corry, M I Levene, R F Mueller, A F Markham, N J Lench, and C G Woods
Author information Copyright and License information Disclaimer

Abstract

Primary (or "true") microcephaly is inherited as an autosomal recessive trait and is thought to be genetically heterogeneous. Using autozygosity mapping, we have identified a genetic locus (MCPH1) for primary microcephaly, at chromosome 8p22-pter, in two consanguineous families of Pakistani origin. Our results indicate that the gene lies within a 13-cM region between the markers D8S1824 and D8S1825 (maximum multipoint LOD score of 8.1 at D8S277). In addition, we have demonstrated the genetic heterogeneity of this condition by analyzing a total of nine consanguineous families with primary microcephaly.

Full Text

The Full Text of this article is available as a PDF (498K).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Alexiou M, Leese HJ. Purine utilisation, de novo synthesis and degradation in mouse preimplantation embryos. Development. 1992 Jan;114(1):185–192. [Abstract] [Google Scholar]
  • Cherbas L, Schulz RA, Koehler MM, Savakis C, Cherbas P. Structure of the Eip28/29 gene, an ecdysone-inducible gene from Drosophila. J Mol Biol. 1986 Jun 20;189(4):617–631. [Abstract] [Google Scholar]
  • COWIE V. The genetics and sub-classification of microcephaly. J Ment Defic Res. 1960 Jun;4:42–47. [Abstract] [Google Scholar]
  • Jaffe M, Tirosh E, Oren S. The dilemma in prenatal diagnosis of idiopathic microcephaly. Dev Med Child Neurol. 1987 Apr;29(2):187–189. [Abstract] [Google Scholar]
  • KOMAI T, KISHIMOTO K, OZAKI Y. Genetic study of microcephaly based on Japanese material. Am J Hum Genet. 1955 Mar;7(1):51–65. [Europe PMC free article] [Abstract] [Google Scholar]
  • Kruglyak L, Daly MJ, Lander ES. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet. 1995 Feb;56(2):519–527. [Europe PMC free article] [Abstract] [Google Scholar]
  • Lander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science. 1987 Jun 19;236(4808):1567–1570. [Abstract] [Google Scholar]
  • Martínez-Pastor MT, Marchler G, Schüller C, Marchler-Bauer A, Ruis H, Estruch F. The Saccharomyces cerevisiae zinc finger proteins Msn2p and Msn4p are required for transcriptional induction through the stress response element (STRE). EMBO J. 1996 May 1;15(9):2227–2235. [Europe PMC free article] [Abstract] [Google Scholar]
  • Minet M, Lacroute F. Cloning and sequencing of a human cDNA coding for a multifunctional polypeptide of the purine pathway by complementation of the ade2-101 mutant in Saccharomyces cerevisiae. Curr Genet. 1990 Nov;18(4):287–291. [Abstract] [Google Scholar]
  • JOHNSTON O, KIRBY VV., Jr Syndactyly of the ring and little finger. Am J Hum Genet. 1955 Mar;7(1):80–82. [Europe PMC free article] [Abstract] [Google Scholar]
  • Qazi QH, Reed TE. A problem in diagnosis of primary versus secondary microcephaly. Clin Genet. 1973;4(1):46–52. [Abstract] [Google Scholar]
  • Schuler GD, Boguski MS, Stewart EA, Stein LD, Gyapay G, Rice K, White RE, Rodriguez-Tomé P, Aggarwal A, Bajorek E, et al. A gene map of the human genome. Science. 1996 Oct 25;274(5287):540–546. [Abstract] [Google Scholar]
  • Tejedor F, Zhu XR, Kaltenbach E, Ackermann A, Baumann A, Canal I, Heisenberg M, Fischbach KF, Pongs O. minibrain: a new protein kinase family involved in postembryonic neurogenesis in Drosophila. Neuron. 1995 Feb;14(2):287–301. [Abstract] [Google Scholar]
  • Tolmie JL, McNay M, Stephenson JB, Doyle D, Connor JM. Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet. 1987 Jul;27(3):583–594. [Abstract] [Google Scholar]
  • VAN DEN BOSCH J. Microcephaly in the Netherlands: a clinical and genetical study. Ann Hum Genet. 1959 Apr;23(2):91–116. [Abstract] [Google Scholar]
  • Wood JW, Johnson KG, Omori Y. In utero exposure to the Hiroshima atomic bomb. An evaluation of head size and mental retardation: twenty years later. Pediatrics. 1967 Mar;39(3):385–392. [Abstract] [Google Scholar]
Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

Full text links 

Read article at publisher's site: https://doi.org/10.1086/301966

Read article for free, from open access legal sources, via Unpaywall: http://www.cell.com/article/S0002929707614980/pdfUnpaywall

Citations & impact 

Impact metrics

98
Citations
Jump to Citations
1
Data citation
Jump to Data

Citations of article over time

Alternative metrics

Altmetric item for https://www.altmetric.com/details/3310175
Altmetric
Discover the attention surrounding your research
https://www.altmetric.com/details/3310175

Smart citations by scite.ai
Smart citations by scite.ai include citation statements extracted from the full text of the citing article. The number of the statements may be higher than the number of citations provided by EuropePMC if one paper cites another multiple times or lower if scite has not yet processed some of the citing articles.
Explore citation contexts and check if this article has been supported or disputed.
https://scite.ai/reports/10.1086/301966

Supporting
Mentioning
Contrasting
2
129
0

Article citations

Go to all (98) article citations

Other citations

Data 

Data behind the article

This data has been text mined from the article, or deposited into data resources.

BioStudies: supplemental material and supporting data

Similar Articles 

To arrive at the top five similar articles we use a word-weighted algorithm to compare words from the Title and Abstract of each citation.

Funding 

Funders who supported this work.

Wellcome Trust