Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

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Standard

Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. / Grønskov, Karen; Dooley, Christopher M; Østergaard, Elsebet; Kelsh, Robert N; Hansen, Lars; Levesque, Mitchell P; Vilhelmsen, Kaj; Møllgård, Kjeld; Stemple, Derek L; Rosenberg, Thomas.

In: American Journal of Human Genetics, Vol. 92, No. 3, 07.03.2013, p. 415-21.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Grønskov, K, Dooley, CM, Østergaard, E, Kelsh, RN, Hansen, L, Levesque, MP, Vilhelmsen, K, Møllgård, K, Stemple, DL & Rosenberg, T 2013, 'Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism', American Journal of Human Genetics, vol. 92, no. 3, pp. 415-21. https://doi.org/10.1016/j.ajhg.2013.01.006

APA

Grønskov, K., Dooley, C. M., Østergaard, E., Kelsh, R. N., Hansen, L., Levesque, M. P., Vilhelmsen, K., Møllgård, K., Stemple, D. L., & Rosenberg, T. (2013). Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. American Journal of Human Genetics, 92(3), 415-21. https://doi.org/10.1016/j.ajhg.2013.01.006

Vancouver

Grønskov K, Dooley CM, Østergaard E, Kelsh RN, Hansen L, Levesque MP et al. Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. American Journal of Human Genetics. 2013 Mar 7;92(3):415-21. https://doi.org/10.1016/j.ajhg.2013.01.006

Author

Grønskov, Karen ; Dooley, Christopher M ; Østergaard, Elsebet ; Kelsh, Robert N ; Hansen, Lars ; Levesque, Mitchell P ; Vilhelmsen, Kaj ; Møllgård, Kjeld ; Stemple, Derek L ; Rosenberg, Thomas. / Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. In: American Journal of Human Genetics. 2013 ; Vol. 92, No. 3. pp. 415-21.

Bibtex

@article{125848cf32d3498287af8f509cf98782,

title = "Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism",

abstract = "Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans.",

author = "Karen Gr{\o}nskov and Dooley, {Christopher M} and Elsebet {\O}stergaard and Kelsh, {Robert N} and Lars Hansen and Levesque, {Mitchell P} and Kaj Vilhelmsen and Kjeld M{\o}llg{\aa}rd and Stemple, {Derek L} and Thomas Rosenberg",

year = "2013",

month = mar,

day = "7",

doi = "10.1016/j.ajhg.2013.01.006",

language = "English",

volume = "92",

pages = "415--21",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "3",

}

RIS

TY - JOUR

T1 - Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism

AU - Grønskov, Karen

AU - Dooley, Christopher M

AU - Østergaard, Elsebet

AU - Kelsh, Robert N

AU - Hansen, Lars

AU - Levesque, Mitchell P

AU - Vilhelmsen, Kaj

AU - Møllgård, Kjeld

AU - Stemple, Derek L

AU - Rosenberg, Thomas

PY - 2013/3/7

Y1 - 2013/3/7

N2 - Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans.

AB - Autosomal-recessive albinism is a hypopigmentation disorder with a broad phenotypic range. A substantial fraction of individuals with albinism remain genetically unresolved, and it has been hypothesized that more genes are to be identified. By using homozygosity mapping of an inbred Faroese family, we identified a 3.5 Mb homozygous region (10q22.2-q22.3) on chromosome 10. The region contains five protein-coding genes, and sequencing of one of these, C10orf11, revealed a nonsense mutation that segregated with the disease and showed a recessive inheritance pattern. Investigation of additional albinism-affected individuals from the Faroe Islands revealed that five out of eight unrelated affected persons had the nonsense mutation in C10orf11. Screening of a cohort of autosomal-recessive-albinism-affected individuals residing in Denmark showed a homozygous 1 bp duplication in C10orf11 in an individual originating from Lithuania. Immunohistochemistry showed localization of C10orf11 in melanoblasts and melanocytes in human fetal tissue, but no localization was seen in retinal pigment epithelial cells. Knockdown of the zebrafish (Danio rerio) homolog with the use of morpholinos resulted in substantially decreased pigmentation and a reduction of the apparent number of pigmented melanocytes. The morphant phenotype was rescued by wild-type C10orf11, but not by mutant C10orf11. In conclusion, we have identified a melanocyte-differentiation gene, C10orf11, which when mutated causes autosomal-recessive albinism in humans.

U2 - 10.1016/j.ajhg.2013.01.006

DO - 10.1016/j.ajhg.2013.01.006

M3 - Journal article

C2 - 23395477

VL - 92

SP - 415

EP - 421

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

SN - 0002-9297

IS - 3

ER -

ID: 47453356